Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IL10 P22301 interleukin 10 5.9E-03 0.281 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
PSEN1 P49768 presenilin 1 Enzyme 0.97 0.469 0.846
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
DCX O43602 doublecortin 0.30 0.511 0.769
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846
NEU1 Q99519 neuraminidase 1 Enzyme 7.3E-05 0.513 0.769
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
PSAP P07602 prosaposin 0.99 0.532 0.846
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
TRNL1 tRNA 0.534 0.731
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
HTT P42858 huntingtin 1.00 0.548 0.654
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
TCN2 P20062 transcobalamin 2 1.0E-06 0.578 0.615
PRKRA O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 0.42 0.579 0.615
MTPAP Q9NVV4 mitochondrial poly(A) polymerase Enzyme 1.00 0.581 0.769