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
DIMT1 Q9UNQ2 DIMT1 rRNA methyltransferase and ribosome maturation factor 3.9E-07 0.760 0.385
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
CAMK2G Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 1.00 0.670 0.462
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
SYN3 O14994 synapsin III Cellular structure 1.9E-03 0.686 0.462
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
PDE10A Q9Y233 phosphodiesterase 10A 1.00 0.619 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