Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
MYBPC1 Q00872 myosin binding protein C1 4.8E-05 0.666 0.462
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
MTM1 Q13496 myotubularin 1 Enzyme 1.00 0.573 0.731
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
SFTPC P11686 surfactant protein C 7.5E-04 0.556 0.692
TIMM50 Q3ZCQ8 translocase of inner mitochondrial membrane 50 1.8E-03 0.678 0.500
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692