Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
BCHE P06276 butyrylcholinesterase 1.1E-13 0.447 0.923
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CNR1 P21554 cannabinoid receptor 1 G-protein coupled receptor 0.51 0.446 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSF2 P04141 colony stimulating factor 2 Signaling 0.83 0.330 0.962
DISC1 Q9NRI5 DISC1 scaffold protein 1.7E-06 0.548 0.769
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
HPRT1 P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 0.94 0.500 0.808
IFNG P01579 interferon gamma 0.47 0.288 0.962
LAMC2 Q13753 laminin subunit gamma 2 Enzyme modulator 2.9E-12 0.389 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NR0B1 P51843 nuclear receptor subfamily 0 group B member 1 Nuclear receptor 0.97 0.494 0.808
NR3C1 P04150 nuclear receptor subfamily 3 group C member 1 Nuclear receptor 0.97 0.393 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PIK3CB P42338 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta Kinase 1.00 0.322 0.885
PIK3CD O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1.00 0.319 0.885
PIK3CG P48736 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma Kinase 1.4E-06 0.320 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
THRB P10828 thyroid hormone receptor beta Nuclear receptor 1.00 0.554 0.769
VEGFA P15692 vascular endothelial growth factor A Signaling 2.4E-05 0.266 0.923