| Disease Aliases (10) | Meb Meb (muscle-eye-brain) syndrome Meb syndrome Muscle-eye-brain diseases Muscle-eye-brain disease Muscle-eye-brain syndrome Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a3 Pomgnt1-related muscle diseases Santavuori congenital muscular dystrophy |
Associated Genes (8) NCBI-RefSeq: POMT1 (Protein O-mannosyltransferase 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: FKRP (Fukutin related protein) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: POMGNT1 (Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: POMT2 (Protein O-mannosyltransferase 2) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: GMPPB (GDP-mannose pyrophosphorylase B) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: B3GALNT2 (Beta-1,3-N-acetylgalactosaminyltransferase 2) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: FKTN (Fukutin) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Muscle eye brain disease | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |