Disease: Movement Disorders
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
ATP1A2 P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 1.8E-04 0.597 0.615
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
FLG-AS1 FLG antisense RNA 1 0.700 0.538
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423