Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NEB P20929 nebulin 4.6E-41 0.608 0.692
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
SKI P12755 SKI proto-oncogene 1.00 0.503 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
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
SAMD9 Q5K651 sterile alpha motif domain containing 9 1.1E-33 0.606 0.808
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769