Disease: Developmental Disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADRA2B P18089 adrenoceptor alpha 2B G-protein coupled receptor 4.5E-06 0.465 0.846
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
DOCK8 Q8NF50 dedicator of cytokinesis 8 Enzyme modulator 1.5E-11 0.578 0.731
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
FOLR1 P15328 folate receptor alpha 0.13 0.522 0.885
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FRAXE fragile site, folic acid type, rare, fra(X)(q28) E 0.636 0.462
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
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
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
PAX6 P26367 paired box 6 1.00 0.450 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PRRT2 Q7Z6L0 proline rich transmembrane protein 2 0.58 0.448 0.808
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
RABL6 Q3YEC7 RAB, member RAS oncogene family like 6 1.00 0.792 0.231