Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
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
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
SLC20A2 Q08357 solute carrier family 20 member 2 Transporter 0.97 0.638 0.577
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654