Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 158
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846 84
ARL2BP Q9Y2Y0 ADP ribosylation factor like GTPase 2 binding protein 3.3E-05 0.647 0.654 30
ARL3 P36405 ADP ribosylation factor like GTPase 3 1.4E-03 0.603 0.615 75
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462 56
ANK1 P16157 ankyrin 1 1.00 0.540 0.885 65
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846 106
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 179
AHR P35869 aryl hydrocarbon receptor Transcription factor 1.00 0.410 0.923 27
ARNT2 Q9HBZ2 aryl hydrocarbon receptor nuclear translocator 2 Transcription factor 0.99 0.599 0.731 55
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769 52
AGBL5 Q8NDL9 ATP/GTP binding protein like 5 Enzyme 2.4E-08 0.711 0.269 30
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 219
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692 68
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538 35
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462 32
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654 55
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615 38
BBS5 Q8N3I7 Bardet-Biedl syndrome 5 4.8E-06 0.659 0.577 35
BBS7 Q8IWZ6 Bardet-Biedl syndrome 7 7.1E-09 0.682 0.462 32
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577 32
BBIP1 A8MTZ0 BBSome interacting protein 1 4.2E-03 0.695 0.423 34
BEST1 O76090 bestrophin 1 Ion channel 1.8E-12 0.465 0.885 56
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577 103