Disease: Generalized hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
UBTF P17480 upstream binding transcription factor 1.00 0.705 0.462
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731