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
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
TUBB6 Q9BUF5 tubulin beta 6 class V Cellular structure 1.7E-04 0.686 0.462
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
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577
SPTB P11277 spectrin beta, erythrocytic 1.00 0.650 0.462
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
RUNX1 Q01196 RUNX family transcription factor 1 Transcription factor 0.65 0.425 0.808
WARS2 Q9UGM6 tryptophanyl tRNA synthetase 2, mitochondrial 5.1E-02 0.617 0.577