Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731