Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 41 96
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692 29 61
ZDHHC24 Q6UX98 zinc finger DHHC-type containing 24 4.2E-04 0.722 0.462 29 37
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538 27 94
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654 22 50
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577 21 23
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769 18 49
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462 13 38
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462 13 8
MKKS Q9NPJ1 McKusick-Kaufman syndrome 2.1E-09 0.566 0.692 10 21
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615 10 20
BBS5 Q8N3I7 Bardet-Biedl syndrome 5 4.8E-06 0.659 0.577 10 16
PIGX Q8TBF5 phosphatidylinositol glycan anchor biosynthesis class X 2.4E-05 0.780 0.308 7 2
CEP19 Q96LK0 centrosomal protein 19 1.6E-02 0.729 0.346 7 2
TTC8 Q8TAM2 tetratricopeptide repeat domain 8 1.2E-06 0.631 0.500 6 6
TRIM32 Q13049 tripartite motif containing 32 1.7E-03 0.587 0.769 6 6
ASTN2 O75129 astrotactin 2 1.00 0.666 0.462 6 6
TRAPPC3 O43617 trafficking protein particle complex 3 0.25 0.792 0.385 6 1
SDCCAG8 Q86SQ7 serologically defined colon cancer antigen 8 1.2E-11 0.619 0.577 5 13
BBS7 Q8IWZ6 Bardet-Biedl syndrome 7 7.1E-09 0.682 0.462 4 18
IFT27 Q9BW83 intraflagellar transport 27 5.9E-06 0.670 0.462 2 3
LZTFL1 Q9NQ48 leucine zipper transcription factor like 1 5.9E-02 0.638 0.692 2 3
BBIP1 A8MTZ0 BBSome interacting protein 1 4.2E-03 0.695 0.423 2 1