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
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
TUBB6 Q9BUF5 tubulin beta 6 class V Cellular structure 1.7E-04 0.686 0.462
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
RHOBTB2 Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 1.3E-02 0.631 0.615
FAM120AOS Q5T036 family with sequence similarity 120A opposite strand 2.2E-02 0.861 0.154
UTP23 Q9BRU9 UTP23 small subunit processome component 8.6E-02 0.711 0.385
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692