Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615
MECR Q9BV79 mitochondrial trans-2-enoyl-CoA reductase 2.2E-05 0.736 0.385
ADD3 Q9UEY8 adducin 3 Cellular structure 1.00 0.641 0.500