Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRIO O75962 trio Rho guanine nucleotide exchange factor Kinase 1.00 0.556 0.731
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
ETV6 P41212 ETS variant transcription factor 6 Transcription factor 0.97 0.477 0.731
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923