Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
Walker-Warburg congenital muscular dystrophy
0.620 GermlineCausalMutation ORPHANET We found that gtdc2 knockdown in zebrafish replicates all WWS features (hydrocephalus, ocular defects, and muscular dystrophy), strongly suggesting that GTDC2 mutations cause WWS. 22958903

2012