Disease: Intellectual Disability
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
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
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
TRIO O75962 trio Rho guanine nucleotide exchange factor Kinase 1.00 0.556 0.731
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
PCNT O95613 pericentrin 4.0E-58 0.564 0.808
HPRT1 P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 0.94 0.500 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885