Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
ANK3 Q12955 ankyrin 3 1.00 0.578 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CDK10 Q15131 cyclin dependent kinase 10 Kinase 1.2E-16 0.650 0.577
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
CPLX1 O14810 complexin 1 0.82 0.576 0.654
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
FBXL4 Q9UKA2 F-box and leucine rich repeat protein 4 1.1E-08 0.695 0.423
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GLDC P23378 glycine decarboxylase Enzyme 6.6E-28 0.628 0.577
HADH Q16836 hydroxyacyl-CoA dehydrogenase 6.6E-05 0.650 0.538
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MTO1 Q9Y2Z2 mitochondrial tRNA translation optimization 1 7.4E-06 0.670 0.462
NGLY1 Q96IV0 N-glycanase 1 Enzyme 1.5E-13 0.601 0.654
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
PGAP3 Q96FM1 post-GPI attachment to proteins phospholipase 3 1.9E-03 0.628 0.731
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615