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
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
SON P18583 SON DNA binding protein 1.00 0.565 0.769
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
ZSWIM6 Q9HCJ5 zinc finger SWIM-type containing 6 1.00 0.626 0.577
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
UBE3B Q7Z3V4 ubiquitin protein ligase E3B 4.2E-08 0.590 0.692
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846