Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
ZDHHC24 Q6UX98 zinc finger DHHC-type containing 24 4.2E-04 0.722 0.462
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CLASP1 Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 1.00 0.751 0.500
EFL1 Q7Z2Z2 elongation factor like GTPase 1 Enzyme 5.1E-08 0.638 0.577
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
STAT5B P51692 signal transducer and activator of transcription 5B Nucleic acid binding 1.00 0.442 0.808
DOCK8 Q8NF50 dedicator of cytokinesis 8 Enzyme modulator 1.5E-11 0.578 0.731