Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EP300 Q09472 E1A binding protein p300 1.00 0.459 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
GABRA3 P34903 gamma-aminobutyric acid type A receptor subunit alpha3 Ion channel 3.9E-02 0.636 0.577
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
GH1 P01241 growth hormone 1 Signaling 3.0E-02 0.373 0.923
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HPRT1 P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 0.94 0.500 0.808
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885
IGFBP3 P17936 insulin like growth factor binding protein 3 Enzyme modulator 0.91 0.439 0.808