Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.600 GermlineCausalMutation ORPHANET Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies. 21727005

2011
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.600 GermlineCausalMutation ORPHANET Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310

2009