Source: MGD

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
Muscular Dystrophy, Facioscapulohumeral
disease 0.200 3 0 1995 2009
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
disease 0.600 1 0 2005 2015
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
disease 0.200 1 0 2005 2005
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
Muscular Dystrophy, Congenital, Type 1D
disease 0.800 0 0 2004 2009