Disease: Microcephaly (physical finding)
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ARL14EP Q8N8R7 ADP ribosylation factor like GTPase 14 effector protein 0.38 0.861 0.192
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538