Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ELN P15502 elastin 2.1E-14 0.415 0.885
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
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
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GPT2 Q8TD30 glutamic--pyruvic transaminase 2 Enzyme 3.4E-04 0.650 0.577
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
H1-4 P10412 H1.4 linker histone, cluster member Nucleic acid binding 0.19 0.682 0.385
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
KMT5B Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 1.00 0.736 0.423
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538