Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
TUBA8 Q9NY65 tubulin alpha 8 Cellular structure 3.6E-05 0.691 0.385
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808
TSC1 Q92574 TSC complex subunit 1 1.00 0.440 0.808
TRNL1 tRNA 0.534 0.731
TCOF1 Q13428 treacle ribosome biogenesis factor 1 0.95 0.550 0.808
TBL1XR1 Q9BZK7 TBL1X receptor 1 1.00 0.534 0.808
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SPTAN1 Q13813 spectrin alpha, non-erythrocytic 1 1.00 0.601 0.615
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
NR3C1 P04150 nuclear receptor subfamily 3 group C member 1 Nuclear receptor 0.97 0.393 0.885
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
KPNA7 A9QM74 karyopherin subunit alpha 7 3.4E-15 0.805 0.308
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
IFNG P01579 interferon gamma 0.47 0.288 0.962