Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731 43 1
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769 36 1
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808 34 1
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577 34 1
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654 26 1
STRN4 Q9NRL3 striatin 4 0.99 0.792 0.346 22 1
PACS1 Q6VY07 phosphofurin acidic cluster sorting protein 1 1.00 0.603 0.615 17 1
TFAM Q00059 transcription factor A, mitochondrial 0.17 0.529 0.731 14 1
ACTL6A O96019 actin like 6A Cellular structure 1.00 0.678 0.346 13 1
UBTF P17480 upstream binding transcription factor 1.00 0.705 0.462 13 1
TOR1AIP1 Q5JTV8 torsin 1A interacting protein 1 1.3E-09 0.729 0.346 13 1
RALGAPB Q86X10 Ral GTPase activating protein non-catalytic subunit beta 1.00 0.659 0.577 13 1
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769 12 1
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808 11 1
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346 11 1
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231 11 1
ISCA1 Q9BUE6 iron-sulfur cluster assembly 1 0.17 0.792 0.231 11 1
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615 10 1
TMEM87B Q96K49 transmembrane protein 87B 3.7E-13 0.861 0.115 10 1
TMEM256 Q8N2U0 transmembrane protein 256 Enzyme 6.1E-04 0.861 0.154 10 1
TMEM256-PLSCR3 TMEM256-PLSCR3 readthrough (NMD candidate) 5.9E-03 0.861 0.154 10 1
ADGRB2 O60241 adhesion G protein-coupled receptor B2 G-protein coupled receptor 1.00 0.890 0.192 8 1
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692 8 1
TUB P50607 TUB bipartite transcription factor 3.1E-03 0.659 0.385 8 1