Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 GeneticVariation LHGDN Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. 18348272

2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 AlteredExpression LHGDN Hutchinson-Gilford progeria syndrome (HGPS) is an accelerated aging disorder caused by point mutation in LMNA encoding A-type nuclear lamins. 18442998

2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 Biomarker LHGDN Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. 17848622

2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 GeneticVariation LHGDN We reviewed the clinical features and skin histology of three children with HGPS associated with the p.G608G LMNA mutation, and compared our findings with those reported in the literature. 17459035

2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 GeneticVariation LHGDN Here we present two patients with extraordinarily severe forms of progeria caused by unusual mutations in LMNA. 17469202

2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 GeneticVariation LHGDN Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells. 17881656

2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 PosttranslationalModification LHGDN The premature aging disease Hutchinson-Gilford Progeria Syndrome (HGPS) is caused by a mutant lamin A (LADelta50). 16738054

2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 GeneticVariation LHGDN Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress. 15982412

2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 Biomarker LHGDN Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome. 15342704

2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 GeneticVariation LHGDN Lamin a truncation in Hutchinson-Gilford progeria. 12702809

2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 GeneticVariation LHGDN LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). 12768443

2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 GeneticVariation LHGDN Immunofluorescence of HGPS fibroblasts with antibodies directed against lamin A revealed that many cells show visible abnormalities of the nuclear membrane. 12714972

2003