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
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
PIK3R2 O00459 phosphoinositide-3-kinase regulatory subunit 2 Enzyme modulator 1.6E-02 0.551 0.808
CHUK O15111 component of inhibitor of nuclear factor kappa B kinase complex Kinase 0.99 0.556 0.731
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885