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