Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808