Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731
RBPJ Q06330 recombination signal binding protein for immunoglobulin kappa J region Nucleic acid binding 1.00 0.518 0.808
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 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
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846