Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.920 | Biomarker | disease | GENOMICS_ENGLAND | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 | ||||
|
0.920 | GeneticVariation | disease | BEFREE | Missense mutations were found in 14 patients (82%) with EDMD2 and 14 patients (78%) with MDCL compared to 17 patients (45%) with LGMD1B and 4 (67%) atypical patients. | 25274841 | 2014 | ||||
|
0.920 | Biomarker | disease | MGD | DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death. | 22090424 | 2012 | ||||
|
0.920 | GeneticVariation | disease | BEFREE | LMNA-related congenital muscular dystrophy (L-CMD) is a recently described disorder characterized by infantile-onset myopathy due to mutations in the lamin A/C (LMNA) gene. | 20886652 | 2010 | ||||
|
0.920 | Biomarker | disease | GENOMICS_ENGLAND | The genetics of dilated cardiomyopathy. | 20186049 | 2010 | ||||
|
0.920 | GermlineCausalMutation | disease | ORPHANET | De novo LMNA mutations cause a new form of congenital muscular dystrophy. | 18551513 | 2008 | ||||
|
0.920 | GeneticVariation | disease | UNIPROT | De novo LMNA mutations cause a new form of congenital muscular dystrophy. | 18551513 | 2008 | ||||
|
0.920 | Biomarker | disease | GENOMICS_ENGLAND | Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. | 11799477 | 2002 | ||||
|
0.920 | GeneticVariation | disease | CLINVAR | |||||||
|
0.920 | Biomarker | disease | CTD_human | |||||||
|
0.920 | CausalMutation | disease | CLINVAR | |||||||
|
0.920 | Biomarker | disease | GENOMICS_ENGLAND |