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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ETV6 P41212 ETS variant transcription factor 6 Transcription factor 0.97 0.477 0.731
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MN1 Q10571 MN1 proto-oncogene, transcriptional regulator 1.00 0.682 0.385
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
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
SMARCE1 Q969G3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 1.00 0.572 0.769
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769