Disease: Seizures
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KAT14 Q9H8E8 lysine acetyltransferase 14 1.3E-09 0.890 0.077
BORCS5 Q969J3 BLOC-1 related complex subunit 5 1.2E-03 0.805 0.192
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308
RSRC2 Q7L4I2 arginine and serine rich coiled-coil 2 1.00 0.769 0.308
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
GCDH Q92947 glutaryl-CoA dehydrogenase 4.9E-03 0.691 0.385
DIMT1 Q9UNQ2 DIMT1 rRNA methyltransferase and ribosome maturation factor 3.9E-07 0.760 0.385
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
FBXL4 Q9UKA2 F-box and leucine rich repeat protein 4 1.1E-08 0.695 0.423
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462
SYN3 O14994 synapsin III Cellular structure 1.9E-03 0.686 0.462
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
CDK20 Q8IZL9 cyclin dependent kinase 20 Kinase 5.9E-14 0.682 0.462
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
ALG3 Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 3.7E-10 0.644 0.500
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538