Gene: POMT1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.020 GeneticVariation group BEFREE Our data suggest the existence of a disease spectrum of CMD including brain and eye abnormalities resulting from POMT1 mutations. 16575835 2006
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.020 GeneticVariation group BEFREE Mutations of the protein O-mannosyltransferase (POMT1) gene affect glycosylation of alpha-dystroglycan, leading to Walker-Warburg syndrome, a lethal disorder in early life with severe congenital muscular dystrophy, and brain and eye malformations. 15792865 2005