Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 Biomarker GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 GermlineCausalMutation ORPHANET LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome. 19283854

2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 Biomarker BEFREE LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome. 19283854

2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 GeneticVariation UNIPROT LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome. 19283854

2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 GeneticVariation UNIPROT Collagen expression in fibroblasts with a novel LMNA mutation. 17150192

2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 GeneticVariation UNIPROT LMNA mutations in atypical Werner's syndrome. 12927431

2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 Biomarker GENOMICS_ENGLAND

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 Biomarker CTD_human

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 CausalMutation CLINVAR