Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
GATA6 Q92908 GATA binding protein 6 1.00 0.478 0.808
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
TPM1 P09493 tropomyosin 1 Cellular structure 1.0E-03 0.560 0.615
COX3 P00414 cytochrome c oxidase III Enzyme 0.546 0.808
CERS1 P27544 ceramide synthase 1 9.7E-02 0.638 0.385
GDF1 P27539 growth differentiation factor 1 Signaling 0.41 0.529 0.692
GATA4 P43694 GATA binding protein 4 0.49 0.458 0.846
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
ZFPM2-AS1 ZFPM2 antisense RNA 1 0.736 0.385
ZFPM2 Q8WW38 zinc finger protein, FOG family member 2 Transcription factor 1.00 0.565 0.731
EPHB4 P54760 EPH receptor B4 Kinase 1.3E-02 0.524 0.692