Gene table: search width pubmed_id = 10080180


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Emery-Dreifuss muscular dystrophy 2, autosomal dominant - (AD)
1.3
10080180
10739764
LMNA (1q22)
Lamin A/C
* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1
* Hutchinson-Gilford progeria syndrome - HGPS
* Mandibuloacral dysplasia with type a lipodystrophy - MADA
* restrictive dermopathy
* Lipodystrophy, familial partial, type 2 - FPLD2
* Cardiomyopathy, dilated, 1A - CMD1A
* Congenital muscular dystrophy due to LMNA defect (L-CMD)
* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2
* Emery-Dreifuss Autosomal recessive - EDMD3
* Muscular dystrophy, limb-girdle, type 1B - LGMD1B