Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769 68
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
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615 64
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538 45
ARL3 P36405 ADP ribosylation factor like GTPase 3 1.4E-03 0.603 0.615 75
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808 21
IDUA P35475 alpha-L-iduronidase Enzyme 3.8E-13 0.499 0.846 112
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654 94
ARMC4 Q5T2S8 armadillo repeat containing 4 1.9E-25 0.641 0.615 38
ARMC9 Q7Z3E5 armadillo repeat containing 9 6.2E-17 0.612 0.731 44
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769 128
ARSB P15848 arylsulfatase B 7.0E-09 0.595 0.692 43
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 254
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692 87
B9D2 Q9BPU9 B9 domain containing 2 Extracellular structure 5.3E-05 0.606 0.577 59
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731 137
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538 51
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577 103
B4GALT1 P15291 beta-1,4-galactosyltransferase 1 Enzyme 3.7E-02 0.674 0.538 9
B4GAT1 O43505 beta-1,4-glucuronyltransferase 1 6.9E-03 0.590 0.538 58
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 147
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 106
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 140