Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
TRNL1 tRNA 0.534 0.731
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
KPNA7 A9QM74 karyopherin subunit alpha 7 3.4E-15 0.805 0.308
DPYS Q14117 dihydropyrimidinase Enzyme 2.8E-11 0.621 0.577
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
TUBA8 Q9NY65 tubulin alpha 8 Cellular structure 3.6E-05 0.691 0.385
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
DEPDC5 O75140 DEP domain containing 5, GATOR1 subcomplex subunit Nucleic acid binding 0.12 0.631 0.538
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
DCX O43602 doublecortin 0.30 0.511 0.769
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
C5AR1 P21730 complement C5a receptor 1 G-protein coupled receptor 0.40 0.513 0.808
IFNG P01579 interferon gamma 0.47 0.288 0.962
CRH P06850 corticotropin releasing hormone Signaling 0.72 0.439 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
TCOF1 Q13428 treacle ribosome biogenesis factor 1 0.95 0.550 0.808
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
NR3C1 P04150 nuclear receptor subfamily 3 group C member 1 Nuclear receptor 0.97 0.393 0.885
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923