Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MTIF2 P46199 mitochondrial translational initiation factor 2 Enzyme 3.7E-10 1.000
SRD5A3-AS1 SRD5A3 antisense RNA 1 0.931 0.077
MSL3 Q8N5Y2 MSL complex subunit 3 Nucleic acid binding 1.00 0.861 0.115
OXSM Q9NWU1 3-oxoacyl-ACP synthase, mitochondrial 2.5E-05 0.861 0.115
SOX9-AS1 SOX9 antisense RNA 1 0.839 0.269
LINC02245 long intergenic non-protein coding RNA 2245 0.821 0.231
PKDCC Q504Y2 protein kinase domain containing, cytoplasmic Kinase 2.1E-05 0.821 0.154
TMEM151B Q8IW70 transmembrane protein 151B 0.14 0.792 0.346
COQ4 Q9Y3A0 coenzyme Q4 3.4E-09 0.780 0.269
COL27A1 Q8IZC6 collagen type XXVII alpha 1 chain 0.59 0.780 0.269
VAX2 Q9UIW0 ventral anterior homeobox 2 Transcription factor 0.16 0.769 0.308
KMT5B Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 1.00 0.736 0.423
SPNS2 Q8IVW8 sphingolipid transporter 2 Transporter 1.2E-05 0.729 0.423
GNAS-AS1 GNAS antisense RNA 1 0.729 0.346
PPP2R5D Q14738 protein phosphatase 2 regulatory subunit B'delta Enzyme 1.00 0.722 0.462
LAMC3 Q9Y6N6 laminin subunit gamma 3 Enzyme modulator 1.4E-23 0.722 0.308
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
TRMU O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.5E-16 0.716 0.385
THOC6 Q86W42 THO complex 6 4.8E-04 0.705 0.577
HECW2 Q9P2P5 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Enzyme 1.00 0.705 0.423
FLG-AS1 FLG antisense RNA 1 0.700 0.538
SLC1A4 P43007 solute carrier family 1 member 4 Transporter 6.6E-02 0.700 0.385
FBXL4 Q9UKA2 F-box and leucine rich repeat protein 4 1.1E-08 0.695 0.423
ATP6V1B1 P15313 ATPase H+ transporting V1 subunit B1 Transporter 2.4E-09 0.695 0.346
CHMP1A Q9HD42 charged multivesicular body protein 1A 2.9E-04 0.695 0.500