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
PTCH1 Q13635 patched 1 1.00 0.398 0.885
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
KLC4 Q9NSK0 kinesin light chain 4 1.2E-03 0.743 0.308
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308
PIGV Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 1.5E-08 0.636 0.615