Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH3A2 P51648 aldehyde dehydrogenase 3 family member A2 9.4E-06 0.619 0.769
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
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
AP4B1-AS1 AP4B1 antisense RNA 1 0.805 0.231
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
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
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
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
GLDC P23378 glycine decarboxylase Enzyme 6.6E-28 0.628 0.577
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
ITGA7 Q13683 integrin subunit alpha 7 4.3E-17 0.588 0.654
KANK1 Q14678 KN motif and ankyrin repeat domains 1 8.0E-18 0.641 0.538
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
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
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
PGAP3 Q96FM1 post-GPI attachment to proteins phospholipase 3 1.9E-03 0.628 0.731