Disease: Cardiac defects
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACE P12821 angiotensin I converting enzyme Enzyme 1.0E-37 0.328 0.923
APLN Q9ULZ1 apelin 0.46 0.497 0.769
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CITED2 Q99967 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 Transcription factor 0.76 0.576 0.654
DGCR DiGeorge syndrome chromosome region 0.678 0.538
DGCR2 P98153 DiGeorge syndrome critical region gene 2 5.2E-06 0.623 0.731
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GATA4 P43694 GATA binding protein 4 0.49 0.458 0.846
GATA6 Q92908 GATA binding protein 6 1.00 0.478 0.808
HAND2 P61296 heart and neural crest derivatives expressed 2 0.40 0.612 0.500
HEY2 Q9UBP5 hes related family bHLH transcription factor with YRPW motif 2 Transcription factor 0.89 0.572 0.731
HIF1A Q16665 hypoxia inducible factor 1 subunit alpha Transcription factor 0.98 0.327 0.923
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
LMNA P02545 lamin A/C 1.00 0.384 0.885
MEIS2 O14770 Meis homeobox 2 Enzyme 1.00 0.601 0.808
NFATC1 O95644 nuclear factor of activated T cells 1 Transcription factor 0.16 0.517 0.731
NKX2-5 P52952 NK2 homeobox 5 Transcription factor 0.95 0.533 0.692
NOS3 P29474 nitric oxide synthase 3 6.7E-07 0.378 0.885
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
NR2F2 P24468 nuclear receptor subfamily 2 group F member 2 Nuclear receptor 0.99 0.575 0.692
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RCAN1 P53805 regulator of calcineurin 1 Signaling 1.7E-02 0.572 0.808
REC8 O95072 REC8 meiotic recombination protein 5.5E-06 0.729 0.231
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654