Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
ACTL6A O96019 actin like 6A Cellular structure 1.00 0.678 0.346
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
SLC20A2 Q08357 solute carrier family 20 member 2 Transporter 0.97 0.638 0.577
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808