Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
Walker-Warburg congenital muscular dystrophy
0.600 Biomarker GENOMICS_ENGLAND Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. 21248746

2011

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

2009

Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
Walker-Warburg congenital muscular dystrophy
0.600 Biomarker CTD_human