Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
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
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GRHL3 Q8TE85 grainyhead like transcription factor 3 Transcription factor 0.99 0.572 0.692
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
RAB23 Q9ULC3 RAB23, member RAS oncogene family 5.6E-03 0.541 0.654
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808