LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.710 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.710 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.710 GermlineCausalMutation disease ORPHANET LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome. 19283854 2009
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.710 Biomarker disease BEFREE LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome. 19283854 2009
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.710 GeneticVariation disease UNIPROT LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome. 19283854 2009
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.710 GeneticVariation disease UNIPROT Collagen expression in fibroblasts with a novel LMNA mutation. 17150192 2007
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.710 GeneticVariation disease UNIPROT LMNA mutations in atypical Werner's syndrome. 12927431 2003
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.710 Biomarker disease CTD_human
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.710 CausalMutation disease CLINVAR