LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57920071
rs57920071
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720860
Disease:
Familial Partial Lipodystrophy, Type 2 		0.830 GeneticVariation BEFREE FPLD2 LMNA mutation R482W dysregulates iPSC-derived adipocyte function and lipid metabolism. 29108996 2018
dbSNP: rs57920071
rs57920071
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720860
Disease:
Familial Partial Lipodystrophy, Type 2 		0.830 GeneticVariation BEFREE In contrast, both overexpression of LMNA R482W in primary human preadipocytes and endogenous expression of A-type lamins R482W in FPLD2 patient fibroblasts, reduce A-type lamins-SREBP1 in situ interactions and upregulate a large number of SREBP1 target genes. 25524705 2015
dbSNP: rs57920071
rs57920071
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720860
Disease:
Familial Partial Lipodystrophy, Type 2 		0.830 GeneticVariation BEFREE We propose a model where the FPLD2 lamin A p.R482W mutation elicits, through up-regulation of FXR1P, a remodeling of an adipogenic differentiation program into a myogenic program. 24108105 2014
dbSNP: rs57920071
rs57920071
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720860
Disease:
Familial Partial Lipodystrophy, Type 2 		0.830 GeneticVariation UNIPROT
dbSNP: rs57920071
rs57920071
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720860
Disease:
Familial Partial Lipodystrophy, Type 2 		T 0.830 CausalMutation CLINVAR
dbSNP: rs60310264
rs60310264
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation BEFREE Mechanics in human fibroblasts and progeria: Lamin A mutation E145K results in stiffening of nuclei. 27677907 2017
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation UNIPROT LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. 23666920 2013
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		T 0.820 CausalMutation CLINVAR Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. 23497705 2013
dbSNP: rs60310264
rs60310264
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation BEFREE Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased elastic modulus. 21941106 2013
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation UNIPROT LMNA mutation in progeroid syndrome in association with strokes. 21791255 2012
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation UNIPROT Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24. 22355414 2012
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation UNIPROT Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes. 19933576 2010
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation BEFREE Homozygous mutation R527C in LMNA yields atypical HGPS, and it suggests an autosomal recessive inheritance in this family. 19432833 2009
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation BEFREE Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. 18796515 2008
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation UNIPROT p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. 15622532 2005
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation UNIPROT Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. 15060110 2004
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation UNIPROT Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. 15286156 2004
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation UNIPROT LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). 12768443 2003
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation UNIPROT Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972 2003
dbSNP: rs57318642
rs57318642
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation UNIPROT LMNA mutations in atypical Werner's syndrome. 12927431 2003
dbSNP: rs60310264
rs60310264
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		A 0.820 CausalMutation CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972 2003
dbSNP: rs60310264
rs60310264
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.820 GeneticVariation UNIPROT
dbSNP: rs56984562
rs56984562
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs58932704
rs58932704
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410190
Disease:
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.810 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
dbSNP: rs56984562
rs56984562
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015