Disease: Seizures
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
EMC1-AS1 EMC1 antisense RNA 1 0.792 0.385
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGF14 Q92915 fibroblast growth factor 14 Signaling 0.91 0.619 0.692
GFAP P14136 glial fibrillary acidic protein 1.5E-06 0.421 0.885
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
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
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769