Disease: Generalized hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
HACE1 Q8IYU2 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 Enzyme 6.1E-06 0.601 0.692
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
KIDINS220 Q9ULH0 kinase D interacting substrate 220 7.4E-02 0.534 0.769
KIF2A O00139 kinesin family member 2A Cellular structure 1.00 0.590 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
MDH2 P40926 malate dehydrogenase 2 Enzyme 6.7E-03 0.595 0.731
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308
PDE10A Q9Y233 phosphodiesterase 10A 1.00 0.619 0.615
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538