Disease: Macrotia
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DPF2 Q92785 double PHD fingers 2 Enzyme 1.00 0.604 0.731
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
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
HERC1 Q15751 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 Enzyme modulator 1.00 0.674 0.500
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846