Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Walker-Warburg syndrome (2.20, 1.35, 2.32)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



Walker-Warburg syndrome (2.24, 1.44)
ISPD (7p21.2)
Isoprenoid synthase domain containing



Walker-Warburg syndrome (2.18, 2.19, 10.59, 1.37)
FKTN (9q31-q33)
Fukutin



Walker-Warburg syndrome (2.33, 1.33, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



Walker-Warburg syndrome (2.21, 2.29, 1.38)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



Walker-Warburg syndrome (2.25, 1.50)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



Walker-Warburg syndrome (WWS) (2.26)
615287
B4GAT1 (11q13.2)
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1



Welander distal myopathy (4.7, 4.8)
604454
TIA1 (2p13)
Cytotoxic granuleassociated RNA binding protein



Welander-like distal myopathy (12.74, 4.21, 4.8)
SQSTM1 (5q35.3)
Sequestosome 1



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