Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
TRIO O75962 trio Rho guanine nucleotide exchange factor Kinase 1.00 0.556 0.731
THRA P10827 thyroid hormone receptor alpha Nuclear receptor 0.33 0.566 0.769
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SPRED1 Q7Z699 sprouty related EVH1 domain containing 1 Receptor 0.97 0.644 0.577
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NDUFAF2 Q8N183 NADH:ubiquinone oxidoreductase complex assembly factor 2 2.1E-06 0.641 0.577