Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MTIF2 P46199 mitochondrial translational initiation factor 2 Enzyme 3.7E-10 1.000 2 1
SRD5A3-AS1 SRD5A3 antisense RNA 1 0.931 0.077 4 4
MSL3 Q8N5Y2 MSL complex subunit 3 Nucleic acid binding 1.00 0.861 0.115 3 9
OXSM Q9NWU1 3-oxoacyl-ACP synthase, mitochondrial 2.5E-05 0.861 0.115 2 1
PKDCC Q504Y2 protein kinase domain containing, cytoplasmic Kinase 2.1E-05 0.821 0.154 4 2
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231 4 5
LINC02245 long intergenic non-protein coding RNA 2245 0.821 0.231 4 5
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231 3 14
SOX9-AS1 SOX9 antisense RNA 1 0.839 0.269 4 16
COQ4 Q9Y3A0 coenzyme Q4 3.4E-09 0.780 0.269 3 14
COL27A1 Q8IZC6 collagen type XXVII alpha 1 chain 0.59 0.780 0.269 3 7
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308 15 20
VAX2 Q9UIW0 ventral anterior homeobox 2 Transcription factor 0.16 0.769 0.308 6 9
CHRNB2 P17787 cholinergic receptor nicotinic beta 2 subunit Ion channel 7.3E-04 0.617 0.308 5 8
LAMC3 Q9Y6N6 laminin subunit gamma 3 Enzyme modulator 1.4E-23 0.722 0.308 3 5
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
TMEM151B Q8IW70 transmembrane protein 151B 0.14 0.792 0.346 10 9
ATP6V1B1 P15313 ATPase H+ transporting V1 subunit B1 Transporter 2.4E-09 0.695 0.346 6 9
AUH Q13825 AU RNA binding methylglutaconyl-CoA hydratase Enzyme 8.0E-06 0.686 0.346 2 3
GNAS-AS1 GNAS antisense RNA 1 0.729 0.346 1 1
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385 25 357
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385 15 16
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385 7 3