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
KIF2A O00139 kinesin family member 2A Cellular structure 1.00 0.590 0.731
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
SYN3 O14994 synapsin III Cellular structure 1.9E-03 0.686 0.462
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
MPDU1 O75352 mannose-P-dolichol utilization defect 1 1.0E-05 0.682 0.500
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
PGK1 P00558 phosphoglycerate kinase 1 Kinase 0.77 0.542 0.769
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
CTSA P10619 cathepsin A Enzyme 5.9E-09 0.619 0.731
SFTPC P11686 surfactant protein C 7.5E-04 0.556 0.692
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615