Disease: Microcephaly (physical finding)
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462
VARS1 P26640 valyl-tRNA synthetase 1 1.8E-08 0.711 0.500
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769