Disease: Fukuyama Type Congenital Muscular Dystrophy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ANO5 Q75V66 anoctamin 5 2.9E-22 0.619 0.538
APRT P07741 adenine phosphoribosyltransferase 5.5E-13 0.423 0.846
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
B4GAT1 O43505 beta-1,4-glucuronyltransferase 1 6.9E-03 0.590 0.538
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DMD P11532 dystrophin 1.00 0.423 0.923
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
LMNA P02545 lamin A/C 1.00 0.384 0.885
MB P02144 myoglobin 3.1E-02 0.556 0.731
MFAP1 P55081 microfibril associated protein 1 Extracellular structure 0.80 0.431 0.846
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
POMGNT2 Q8NAT1 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Enzyme 5.6E-06 0.628 0.500
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
RXYLT1 Q9Y2B1 ribitol xylosyltransferase 1 1.1E-06 0.633 0.462
SGCG Q13326 sarcoglycan gamma Cellular structure 4.8E-05 0.621 0.615
SSPN Q14714 sarcospan 4.0E-02 0.716 0.462