Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
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
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
GPT2 Q8TD30 glutamic--pyruvic transaminase 2 Enzyme 3.4E-04 0.650 0.577
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
GTF2H5 Q6ZYL4 general transcription factor IIH subunit 5 4.5E-02 0.556 0.769
H1-4 P10412 H1.4 linker histone, cluster member Nucleic acid binding 0.19 0.682 0.385
HCCS P53701 holocytochrome c synthase Enzyme 0.89 0.559 0.731
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808
HNF1B P35680 HNF1 homeobox B Nucleic acid binding 1.00 0.473 0.808
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308
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
IKBKG Q9Y6K9 inhibitor of nuclear factor kappa B kinase regulatory subunit gamma Kinase 8.5E-02 0.493 0.769
IL6 P05231 interleukin 6 0.32 0.248 0.962