Disease: Generalized hypotonia
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
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
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
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
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
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
UBTF P17480 upstream binding transcription factor 1.00 0.705 0.462
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
MDH2 P40926 malate dehydrogenase 2 Enzyme 6.7E-03 0.595 0.731
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
PPT1 P50897 palmitoyl-protein thioesterase 1 Enzyme 4.9E-05 0.593 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846