Disease: Generalized hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808