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
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
RBM10 P98175 RNA binding motif protein 10 1.00 0.599 0.615
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
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
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
ZC4H2 Q9NQZ6 zinc finger C4H2-type containing 0.91 0.561 0.731
ALX4 Q9H161 ALX homeobox 4 0.36 0.560 0.692
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
WDR26 Q9H7D7 WD repeat domain 26 1.00 0.606 0.769
UBE3B Q7Z3V4 ubiquitin protein ligase E3B 4.2E-08 0.590 0.692