Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
PTEN P60484 phosphatase and tensin homolog hydrolase; phosphatase 0.82 0.334 0.828 15
FKTN O75072 fukutin 7.7E-07 0.522 0.586 14
BRCA2 P51587 BRCA2, DNA repair associated nucleic acid binding 5.5E-24 0.426 0.793 12
LMNA P02545 lamin A/C 1.00 0.406 0.724 12
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 2.5E-17 0.559 0.552 12
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.512 0.690 11
DES P17661 desmin 7.7E-03 0.503 0.759 11
FKRP Q9H9S5 fukutin related protein 6.3E-05 0.514 0.586 11
PEX1 O43933 peroxisomal biogenesis factor 1 3.3E-14 0.554 0.655 11
PEX7 O00628 peroxisomal biogenesis factor 7 1.3E-12 0.592 0.655 11
POLG P54098 DNA polymerase gamma, catalytic subunit nucleic acid binding; transferase 1.3E-09 0.477 0.724 11
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 8.5E-20 0.557 0.483 11
POMT2 Q9UKY4 protein O-mannosyltransferase 2 1.4E-11 0.558 0.552 11
SMAD4 Q13485 SMAD family member 4 transcription factor 1.00 0.430 0.759 11
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 nucleic acid binding 4.8E-17 0.586 0.552 10
GLA P06280 galactosidase alpha 1.00 0.588 0.621 10
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 5.1E-07 0.645 0.345 10
ISPD A4D126 isoprenoid synthase domain containing 9.0E-04 0.582 0.483 10
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 transferase 0.530 0.621 10
LDB3 O75112 LIM domain binding 3 cytoskeletal protein 6.5E-06 0.690 0.241 10
PEX11B O96011 peroxisomal biogenesis factor 11 beta 9.8E-05 0.592 0.586 10
PEX26 Q7Z412 peroxisomal biogenesis factor 26 0.94 0.584 0.552 10
PEX6 Q13608 peroxisomal biogenesis factor 6 3.7E-05 0.562 0.655 10
TTN Q8WZ42 titin 6.4E-84 0.534 0.655 10