Disease: Dysmorphic facies
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATP6V1B2 P21281 ATPase H+ transporting V1 subunit B2 Transporter 0.99 0.606 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CELSR2 Q9HCU4 cadherin EGF LAG seven-pass G-type receptor 2 G-protein coupled receptor 1.00 0.656 0.577
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
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
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
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
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
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KCNK4 Q9NYG8 potassium two pore domain channel subfamily K member 4 Ion channel 5.7E-03 0.743 0.385
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692