Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692
RBPJ Q06330 recombination signal binding protein for immunoglobulin kappa J region Nucleic acid binding 1.00 0.518 0.808
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
ZSWIM6 Q9HCJ5 zinc finger SWIM-type containing 6 1.00 0.626 0.577