Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
C5AR1 P21730 complement C5a receptor 1 G-protein coupled receptor 0.40 0.513 0.808
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CRH P06850 corticotropin releasing hormone Signaling 0.72 0.439 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DCX O43602 doublecortin 0.30 0.511 0.769
DEPDC5 O75140 DEP domain containing 5, GATOR1 subcomplex subunit Nucleic acid binding 0.12 0.631 0.538
DPYS Q14117 dihydropyrimidinase Enzyme 2.8E-11 0.621 0.577
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
HDAC4 P56524 histone deacetylase 4 Epigenetic regulator 1.00 0.484 0.885
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
IFNG P01579 interferon gamma 0.47 0.288 0.962
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
KPNA7 A9QM74 karyopherin subunit alpha 7 3.4E-15 0.805 0.308
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NR3C1 P04150 nuclear receptor subfamily 3 group C member 1 Nuclear receptor 0.97 0.393 0.885
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769