Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
THOC6 Q86W42 THO complex 6 4.8E-04 0.705 0.577
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
ZRANB3 Q5FWF4 zinc finger RANBP2-type containing 3 4.2E-21 0.780 0.577
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
SBDS Q9Y3A5 SBDS ribosome maturation factor Enzyme 6.2E-05 0.601 0.692
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769