Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
CACNA1G O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 1.00 0.590 0.577
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
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
PPT1 P50897 palmitoyl-protein thioesterase 1 Enzyme 4.9E-05 0.593 0.808
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
CAMK2G Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 1.00 0.670 0.462
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PTCH1 Q13635 patched 1 1.00 0.398 0.885
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462