Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
PRSS23 O95084 serine protease 23 Enzyme 1.9E-05 0.722 0.346
FZD4 Q9ULV1 frizzled class receptor 4 G-protein coupled receptor 0.97 0.490 0.923