Disease: Developmental Disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
EIF2B2 P49770 eukaryotic translation initiation factor 2B subunit beta 2.1E-10 0.647 0.538
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
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
FOXC1 Q12948 forkhead box C1 Transcription factor 0.95 0.483 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FOXP2 O15409 forkhead box P2 1.00 0.545 0.808
FRAXA fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 0.641 0.462
FRAXE fragile site, folic acid type, rare, fra(X)(q28) E 0.636 0.462
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
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
IL6 P05231 interleukin 6 0.32 0.248 0.962
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
KCNJ6 P48051 potassium inwardly rectifying channel subfamily J member 6 Ion channel 0.54 0.615 0.692
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
KDM3B Q7LBC6 lysine demethylase 3B Epigenetic regulator 1.00 0.686 0.500
KDM5B Q9UGL1 lysine demethylase 5B Epigenetic regulator 7.9E-15 0.532 0.731
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885