Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Walker-Warburg syndrome (2.20, 1.31)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



Walker-Warburg syndrome (2.24, 1.41)
ISPD (7p21.2)
Isoprenoid synthase domain containing



Walker-Warburg syndrome (2.18, 2.19, 10.59, 1.33)
FKTN (9q31-q33)
Fukutin



Walker-Warburg syndrome (2.31, 1.29, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



Walker-Warburg syndrome (2.21, 2.29, 1.34)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



Walker-Warburg syndrome (2.27, 2.23, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



Walker-Warburg syndrome (2.25)
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)
604454
TIA1 (2p13)
Cytotoxic granuleassociated RNA binding protein