Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
WDR19 Q8NEZ3 WD repeat domain 19 4.6E-11 0.554 0.769
TTC21B Q7Z4L5 tetratricopeptide repeat domain 21B 2.7E-26 0.619 0.654
IQCB1 Q15051 IQ motif containing B1 1.4E-12 0.641 0.654
TTC21B-AS1 TTC21B antisense RNA 1 0.769 0.346
PKHD1 P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 1.2E-47 0.576 0.654
NPHP3 Q7Z494 nephrocystin 3 9.8E-16 0.597 0.654
INTU Q9ULD6 inturned planar cell polarity protein 7.7E-10 0.555 0.769
NPHP4 O75161 nephrocystin 4 1.7E-29 0.674 0.423
PAM16 Q9Y3D7 presequence translocase associated motor 16 Transporter 0.24 0.729 0.462
INVS Q9Y283 inversin 5.6E-18 0.619 0.538
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
GLIS2 Q9BZE0 GLIS family zinc finger 2 Transcription factor 0.86 0.608 0.462
RBM48 Q5RL73 RNA binding motif protein 48 1.5E-07 1.000 0.077
NPHP3-AS1 NPHP3 antisense RNA 1 1.000 0.077
PRPF40B Q6NWY9 pre-mRNA processing factor 40 homolog B 1.00 0.821 0.269
INCENP Q9NQS7 inner centromere protein 0.89 0.700 0.346
FAM186B Q8IYM0 family with sequence similarity 186 member B 5.5E-24 1.000 0.077
PIAS1 O75925 protein inhibitor of activated STAT 1 1.00 0.633 0.731