Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS2 Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 5.0E-17 0.644 0.500
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423