Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
SMCHD1 A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 1.00 0.631 0.615
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
SETD1A O15047 SET domain containing 1A, histone lysine methyltransferase 1.00 0.619 0.615
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
CNOT3 O75175 CCR4-NOT transcription complex subunit 3 Transcription factor 1.00 0.686 0.615
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
H1-4 P10412 H1.4 linker histone, cluster member Nucleic acid binding 0.19 0.682 0.385
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808