Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731