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
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
NEB P20929 nebulin 4.6E-41 0.608 0.692
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
UBE3B Q7Z3V4 ubiquitin protein ligase E3B 4.2E-08 0.590 0.692
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
ZNF335 Q9H4Z2 zinc finger protein 335 Transcription factor 6.9E-07 0.711 0.462
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
NDUFAF2 Q8N183 NADH:ubiquinone oxidoreductase complex assembly factor 2 2.1E-06 0.641 0.577
PLCB4 Q15147 phospholipase C beta 4 Enzyme 3.0E-06 0.610 0.731
SPNS2 Q8IVW8 sphingolipid transporter 2 Transporter 1.2E-05 0.729 0.423
PKDCC Q504Y2 protein kinase domain containing, cytoplasmic Kinase 2.1E-05 0.821 0.154