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
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GRHL3 Q8TE85 grainyhead like transcription factor 3 Transcription factor 0.99 0.572 0.692
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
MSMO1 Q15800 methylsterol monooxygenase 1 Enzyme 9.0E-02 0.729 0.385
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
SON P18583 SON DNA binding protein 1.00 0.565 0.769
SPRED1 Q7Z699 sprouty related EVH1 domain containing 1 Receptor 0.97 0.644 0.577
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923