Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
EMC1-AS1 EMC1 antisense RNA 1 0.792 0.385
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538