Disease: Developmental delay (disorder)
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
PIK3CD O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1.00 0.319 0.885
DLL1 O00548 delta like canonical Notch ligand 1 1.00 0.492 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
KDM6B O15054 lysine demethylase 6B Epigenetic regulator 1.00 0.514 0.808
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
FOXP2 O15409 forkhead box P2 1.00 0.545 0.808
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
DIAPH1 O60610 diaphanous related formin 1 0.92 0.623 0.654
HPGDS O60760 hematopoietic prostaglandin D synthase 1.8E-06 0.388 0.923
BANF1 O75531 BAF nuclear assembly factor 1 0.65 0.599 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
POMC P01189 proopiomelanocortin 1.2E-04 0.356 0.846
APOE P02649 apolipoprotein E 1.9E-03 0.338 0.962