Source: INFERRED

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 CausalMutation CLINVAR Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. 24639906

2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation CLINVAR A new lamin a mutation associated with acrogeria syndrome. 24687084

2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation CLINVAR Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. 23497705

2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation CLINVAR Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C. 23804595

2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation CLINVAR A novel lamin A/C mutation in a Dutch family with premature atherosclerosis. 23659872

2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation CLINVAR Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. 22065502

2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR Altered splicing in prelamin A-associated premature aging phenotypes. 17076270

2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation CLINVAR LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. 15121795

2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation CLINVAR Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. 15317753

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

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

2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 GeneticVariation CLINVAR