Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
PKD1 P98161 polycystin 1, transient receptor potential channel interacting 1.00 0.493 0.769
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654
UMOD P07911 uromodulin 3.1E-17 0.520 0.846
INF2 Q27J81 inverted formin, FH2 and WH2 domain containing 0.97 0.644 0.423
SCARB2 Q14108 scavenger receptor class B member 2 Receptor 8.9E-05 0.606 0.615