×
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Hereditary Motor and Sensory-Neuropathy Type II
0.120
GeneticVariation
CLINVAR
HNRNPUL2-BSCL2
Hereditary Motor and Sensory-Neuropathy Type II
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Giant cell tumor of soft parts. An ultrastructural study.
184582 1976
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Contact sensitivity to phenylbutazone (Butazolidine) cream.
1839274 1991
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
[Urinary incontinence in women is treated differently depending on the type].
2280636 1990
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
10080180 1999
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
10580070 1999
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
10587585 2000
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.
10612827 2000
×
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.
10732809 1997
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
10739764 2000
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
10814726 2000
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
10939567 2000
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
11503164 2001
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
11561226 2001
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
11792809 2001
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.
11792810 2001
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
11897440 2002
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Emery-Dreifuss muscular dystrophy.
11973618 2002
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
12015247 2002
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
GeneticVariation
CLINVAR
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
12015247 2002
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
12075506 2002
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
12467752 2002
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
12628721 2003
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hereditary Motor and Sensory-Neuropathy Type II
0.100
CausalMutation
CLINVAR
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
12629077 2003