Disease: Muscle hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TTN-AS1 TTN antisense RNA 1 0.599 0.577
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
THRA P10827 thyroid hormone receptor alpha Nuclear receptor 0.33 0.566 0.769
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
SON P18583 SON DNA binding protein 1.00 0.565 0.769
NEB P20929 nebulin 4.6E-41 0.608 0.692
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654