Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
NEB P20929 nebulin 4.6E-41 0.608 0.692
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
EFNB1 P98172 ephrin B1 Signaling 0.93 0.561 0.769
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808