Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808