Disease: Seizures
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
EMC1-AS1 EMC1 antisense RNA 1 0.792 0.385
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
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
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
GFAP P14136 glial fibrillary acidic protein 1.5E-06 0.421 0.885
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
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FGF14 Q92915 fibroblast growth factor 14 Signaling 0.91 0.619 0.692
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
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
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846