Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Walker-Warburg syndrome (2.19, 1.43, 2.33)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



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



Walker-Warburg syndrome (1.46, 2.36, 2.22, 10.61)
FKTN (9q31-q33)
Fukutin



Walker-Warburg syndrome (1.47, 2.23, 2.37)
FKRP (19q13.32)
Fukutin-related protein



Walker-Warburg syndrome (2.20, 2.34, 1.44)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



Walker-Warburg syndrome (2.26, 1.49)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



Walker-Warburg syndrome (WWS) (2.31)
615287
B4GAT1 (11q13.2)
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1



Walker-Warburg syndrome (WWS) (2.25, 1.48)
614643
CRPPA (7p21.2-p21.1)
Isoprenoid synthase domain containing protein



Welander distal myopathy (4.14, 4.15, 12.79)
604454
TIA1 (2p13)
Cytotoxic granuleassociated RNA binding protein



Welander-like distal myopathy (12.87, 4.23, 4.15)
SQSTM1 (5q35.3)
Sequestosome 1



Wieacker-Wolff syndrome (5.47)
314580
ZC4H2 (Xq11.2)
Zinc Finger C4H2 domain-containing protein