Disease: Global developmental delay
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PTCH1 Q13635 patched 1 1.00 0.398 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769