Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WHCR Wolf-Hirschhorn syndrome chromosome region 0.638 0.577
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
NDUFS8 O00217 NADH:ubiquinone oxidoreductase core subunit S8 Enzyme 0.17 0.636 0.538
TULP1 O00294 TUB like protein 1 5.7E-04 0.623 0.462
SLC33A1 O00400 solute carrier family 33 member 1 Transporter 9.9E-05 0.529 0.769
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808
PLK4 O00444 polo like kinase 4 Kinase 7.1E-06 0.551 0.731
NDUFA4 O00483 NDUFA4 mitochondrial complex associated Enzyme 2.4E-02 0.695 0.462
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
PEX12 O00623 peroxisomal biogenesis factor 12 Transporter 9.5E-16 0.601 0.615
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
MRAS O14807 muscle RAS oncogene homolog Enzyme modulator 0.92 0.590 0.731
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
DEGS1 O15121 delta 4-desaturase, sphingolipid 1 0.14 0.621 0.731
NDUFA1 O15239 NADH:ubiquinone oxidoreductase subunit A1 0.55 0.636 0.423