Disease: Generalized hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
UBTF P17480 upstream binding transcription factor 1.00 0.705 0.462
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846