Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CECR cat eye syndrome chromosome region 0.599 0.731
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
SAMD9 Q5K651 sterile alpha motif domain containing 9 1.1E-33 0.606 0.808
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
NADSYN1 Q6IA69 NAD synthetase 1 1.3E-16 0.780 0.231
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
AAAS Q9NRG9 aladin WD repeat nucleoporin 2.4E-13 0.601 0.654
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
PIK3R2 O00459 phosphoinositide-3-kinase regulatory subunit 2 Enzyme modulator 1.6E-02 0.551 0.808
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731