Disease: Infantile Spasm
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
CPP ceruloplasmin pseudogene 0.631 0.731
SIK1 A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 0.94 0.544 0.731
KPNA7 A9QM74 karyopherin subunit alpha 7 3.4E-15 0.805 0.308
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
DCX O43602 doublecortin 0.30 0.511 0.769
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
C5 P01031 complement C5 Enzyme modulator 8.1E-24 0.550 0.731
NGF P01138 nerve growth factor Signaling 0.82 0.391 0.885
POMC P01189 proopiomelanocortin 1.2E-04 0.356 0.846
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769
NR3C1 P04150 nuclear receptor subfamily 3 group C member 1 Nuclear receptor 0.97 0.393 0.885
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
CRH P06850 corticotropin releasing hormone Signaling 0.72 0.439 0.808
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
ITGA2B P08514 integrin subunit alpha 2b 1.5E-16 0.493 0.692
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
C5AR1 P21730 complement C5a receptor 1 G-protein coupled receptor 0.40 0.513 0.808
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
SLC6A4 P31645 solute carrier family 6 member 4 Transporter 0.25 0.429 0.808