Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FLG-AS1 FLG antisense RNA 1 0.700 0.538
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
IFT122 Q9HBG6 intraflagellar transport 122 2.4E-24 0.560 0.846
HOOK2 Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 4.6E-18 0.659 0.654
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
PCDH12 Q9NPG4 protocadherin 12 2.9E-13 0.722 0.346
SMG9 Q9H0W8 SMG9 nonsense mediated mRNA decay factor 3.5E-13 0.729 0.346
TMEM87B Q96K49 transmembrane protein 87B 3.7E-13 0.861 0.115
WDR19 Q8NEZ3 WD repeat domain 19 4.6E-11 0.554 0.769
SLC17A5 Q9NRA2 solute carrier family 17 member 5 Transporter 6.9E-10 0.491 0.808
TAF6 P49848 TATA-box binding protein associated factor 6 Transcription factor 8.3E-09 0.769 0.308
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
FAM98C Q17RN3 family with sequence similarity 98 member C 1.1E-07 0.931 0.115
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
MTFMT Q96DP5 mitochondrial methionyl-tRNA formyltransferase Enzyme 1.5E-07 0.595 0.808
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
POLR3GL Q9BT43 RNA polymerase III subunit G like Enzyme 2.3E-05 0.839 0.231