Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ATP8B1 O43520 ATPase phospholipid transporting 8B1 Transporter 2.8E-10 0.610 0.500
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FKBP10 Q96AY3 FKBP prolyl isomerase 10 2.4E-06 0.606 0.538
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
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
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808