| Disease Aliases (22) | Acta1-related congenital fiber-type disproportion Cftd Cftdm Congenital fiber-type disproportion Congenital fiber-type disproportions Congenital fiber type disproportion Congenital fiber-type disproportion myopathy Disproportion, congenital fiber-type Disproportions, congenital fiber-type Fiber-type disproportion myopathy, congenital Fiber type disproportion myopathy, congenital Fiber-type disproportion, congenital Fiber-type disproportions, congenital Fiber-type disproportion Myopathy, congenital with fiber-type disproportion Ryr1-related congenital fiber-type disproportion Tpm3-related congenital fiber-type disproportion Congenital myopathy with fiber type disproportion Congenital myopathy with fibre type disproportion Myopathy, congenital, with fiber-type disproportion Myopathy, congenital, with fiber-type disproportion; cftd |
Associated Genes (8) NCBI-RefSeq: TPM3 (Tropomyosin 3) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: HACD1 (3-hydroxyacyl-CoA dehydratase 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: TPM2 (Tropomyosin 2) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: ACTA1 (Actin alpha 1, skeletal muscle) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: MYL2 (Myosin light chain 2) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SELENON (Selenoprotein N) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: MAP3K20 (Mitogen-activated protein kinase kinase kinase 20) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: ITGA7 (Integrin subunit alpha 7) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Congenital myopathy with fiber type disproportion | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |