Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TTN-AS1 TTN antisense RNA 1 0.599 0.577
XYLT2 Q9H1B5 xylosyltransferase 2 0.93 0.566 0.808