Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
PACS1 Q6VY07 phosphofurin acidic cluster sorting protein 1 1.00 0.603 0.615
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
RBPJ Q06330 recombination signal binding protein for immunoglobulin kappa J region Nucleic acid binding 1.00 0.518 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808