Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
DCX O43602 doublecortin 0.30 0.511 0.769
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846
GLDC P23378 glycine decarboxylase Enzyme 6.6E-28 0.628 0.577
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
HTT P42858 huntingtin 1.00 0.548 0.654
IL10 P22301 interleukin 10 5.9E-03 0.281 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MTPAP Q9NVV4 mitochondrial poly(A) polymerase Enzyme 1.00 0.581 0.769
NEU1 Q99519 neuraminidase 1 Enzyme 7.3E-05 0.513 0.769
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
PGAP3 Q96FM1 post-GPI attachment to proteins phospholipase 3 1.9E-03 0.628 0.731
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
PIGO Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 6.1E-11 0.636 0.615
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
PIGV Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 1.5E-08 0.636 0.615
PIGY Q3MUY2 phosphatidylinositol glycan anchor biosynthesis class Y 9.7E-02 0.628 0.577
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
PRICKLE1 Q96MT3 prickle planar cell polarity protein 1 Cellular structure 1.00 0.647 0.615
PRKRA O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 0.42 0.579 0.615
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923
PSAP P07602 prosaposin 0.99 0.532 0.846