Disease: Macrotia
Source: ALL
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
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
APC2 O95996 APC regulator of WNT signaling pathway 2 1.00 0.582 0.654
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRWD3 Q6RI45 bromodomain and WD repeat domain containing 3 1.00 0.716 0.538
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
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
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLNA P21333 filamin A 1.00 0.419 0.846
HECW2 Q9P2P5 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Enzyme 1.00 0.705 0.423
HERC1 Q15751 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 Enzyme modulator 1.00 0.674 0.500
ITGA3 P26006 integrin subunit alpha 3 3.6E-07 0.573 0.731
KCNJ1 P48048 potassium inwardly rectifying channel subfamily J member 1 Ion channel 4.6E-05 0.619 0.577
KDM6B O15054 lysine demethylase 6B Epigenetic regulator 1.00 0.514 0.808
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
LMNA P02545 lamin A/C 1.00 0.384 0.885
MBTPS1 Q14703 membrane bound transcription factor peptidase, site 1 Enzyme 7.6E-09 0.532 0.692
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
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538