Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
PAX6 P26367 paired box 6 1.00 0.450 0.769
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
SMOC1 Q9H4F8 SPARC related modular calcium binding 1 Calcium-binding protein 9.5E-03 0.565 0.846
FFAR4 Q5NUL3 free fatty acid receptor 4 1.4E-05 0.621 0.577
MFRP Q9BY79 membrane frizzled-related protein Enzyme 1.3E-15 0.621 0.538
CRYGC P07315 crystallin gamma C 6.1E-04 0.612 0.577
RBP4 P02753 retinol binding protein 4 Transporter 0.52 0.493 0.808
TENM3 Q9P273 teneurin transmembrane protein 3 1.00 0.599 0.692
FOXE3 Q13461 forkhead box E3 Transcription factor 0.18 0.568 0.654
VSX2 P58304 visual system homeobox 2 1.6E-04 0.695 0.462
WNT7B P56706 Wnt family member 7B Signaling 7.4E-04 0.633 0.346