Disease: Macrotia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ALKBH8 Q96BT7 alkB homolog 8, tRNA methyltransferase 2.0E-04 0.716 0.423
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
FIBP O43427 FGF1 intracellular binding protein 4.4E-06 0.674 0.538
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
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
HHAT Q5VTY9 hedgehog acyltransferase Enzyme 3.2E-08 0.608 0.577
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
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
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
NDP Q00604 norrin cystine knot growth factor NDP 0.65 0.566 0.692
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538
OSGEP Q9NPF4 O-sialoglycoprotein endopeptidase Enzyme 7.1E-08 0.626 0.615
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692