Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
SAMD9 Q5K651 sterile alpha motif domain containing 9 1.1E-33 0.606 0.808
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
AAAS Q9NRG9 aladin WD repeat nucleoporin 2.4E-13 0.601 0.654
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
PTRH2 Q9Y3E5 peptidyl-tRNA hydrolase 2 6.4E-04 0.641 0.577
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615
PIK3R2 O00459 phosphoinositide-3-kinase regulatory subunit 2 Enzyme modulator 1.6E-02 0.551 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
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
TWIST2 Q8WVJ9 twist family bHLH transcription factor 2 Transcription factor 0.56 0.518 0.731
PAX2 Q02962 paired box 2 0.67 0.495 0.731
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923