Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
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
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769