Disease: Global developmental delay
Source: CLINVAR ×
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
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846