Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WDR19 Q8NEZ3 WD repeat domain 19 4.6E-11 0.554 0.769
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
TMEM256-PLSCR3 TMEM256-PLSCR3 readthrough (NMD candidate) 5.9E-03 0.861 0.154
TMEM256 Q8N2U0 transmembrane protein 256 Enzyme 6.1E-04 0.861 0.154
FAM98C Q17RN3 family with sequence similarity 98 member C 1.1E-07 0.931 0.115
IFT122 Q9HBG6 intraflagellar transport 122 2.4E-24 0.560 0.846