Disease: Muscle hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846