Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
FKBP10 Q96AY3 FKBP prolyl isomerase 10 2.4E-06 0.606 0.538
RAB23 Q9ULC3 RAB23, member RAS oncogene family 5.6E-03 0.541 0.654
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
SON P18583 SON DNA binding protein 1.00 0.565 0.769
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577