Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
ADA2 Q9NZK5 adenosine deaminase 2 Enzyme 8.1E-08 0.545 0.846
NOD2 Q9HC29 nucleotide binding oligomerization domain containing 2 Enzyme 2.0E-30 0.423 0.923
TNFRSF1A P19438 TNF receptor superfamily member 1A 0.99 0.409 0.923
PSTPIP1 O43586 proline-serine-threonine phosphatase interacting protein 1 Cellular structure 2.5E-06 0.650 0.577