Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CHD4 Q14839 chromodomain helicase DNA binding protein 4 1.00 0.593 0.654
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
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
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
TRIO O75962 trio Rho guanine nucleotide exchange factor Kinase 1.00 0.556 0.731
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
NR2F2 P24468 nuclear receptor subfamily 2 group F member 2 Nuclear receptor 0.99 0.575 0.692
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
NODAL Q96S42 nodal growth differentiation factor Signaling 0.97 0.588 0.731