Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
GSPT2 Q8IYD1 G1 to S phase transition 2 Enzyme 0.98 0.821 0.154 3 1
ZNF142 P52746 zinc finger protein 142 Transcription factor 4.8E-16 0.861 0.192 5 20
TSPEAR-AS1 TSPEAR antisense RNA 1 0.821 0.269 15 2
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308 6 6
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
ACTL6A O96019 actin like 6A Cellular structure 1.00 0.678 0.346 13 1
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385 22 17
TSPEAR Q8WU66 thrombospondin type laminin G domain and EAR repeats 2.4E-17 0.736 0.385 15 4
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385 7 3
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385 7 5
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423 34 5
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423 18 23
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423 17 31
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423 16 10
KMT5B Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 1.00 0.736 0.423 8 8
GRIK4 Q16099 glutamate ionotropic receptor kainate type subunit 4 Ion channel 0.11 0.678 0.423 4 2
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462 46 10
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462 37 3
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462 26 23
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462 15 40
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462 13 38
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462 12 31