Disease: Coarse facial features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
IDUA P35475 alpha-L-iduronidase Enzyme 3.8E-13 0.499 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
GUSB P08236 glucuronidase beta 4.0E-08 0.530 0.846
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
SMARCE1 Q969G3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 1.00 0.572 0.769
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692
DPF2 Q92785 double PHD fingers 2 Enzyme 1.00 0.604 0.731
KCNJ8 Q15842 potassium inwardly rectifying channel subfamily J member 8 Ion channel 0.38 0.619 0.538
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
SUMF1 Q8NBK3 sulfatase modifying factor 1 2.3E-08 0.641 0.538