| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | CausalMutation | CLINVAR | ||||||||
Lymphopenia
|
0.700 | GeneticVariation | CLINVAR | ||||||||
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.700 | CausalMutation | CLINVAR | ||||||||
Familial dilated cardiomyopathy
|
0.700 | CausalMutation | CLINVAR | ||||||||
Wolff-Parkinson-White Syndrome
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Immunologic Deficiency Syndromes
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Severe Combined Immunodeficiency
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Abnormality of T cell physiology
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Abnormality of cellular immune system
|
0.700 | GeneticVariation | CLINVAR | ||||||||
CARDIOMYOPATHY, DILATED, 1S
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cardiomyopathy, Hypertrophic, Familial
|
0.700 | GeneticVariation | CLINVAR | ||||||||
MYOPATHY, MYOSIN STORAGE (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Combined immunodeficiency
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Congenital Fiber Type Disproportion
|
0.700 | CausalMutation | CLINVAR | ||||||||
Myopathy, Hyaline Body, Autosomal Recessive
|
0.700 | CausalMutation | CLINVAR | ||||||||
Distal Myopathy 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." | 12951062 | 2003 | |||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). | 25173338 | 2014 | |||||
Cardiomyopathy, Hypertrophic, Familial
|
0.700 | CausalMutation | CLINVAR | A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. | 16858239 | 2006 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. | 19880069 | 2009 | |||||
Cardiomyopathy, Hypertrophic, Familial
|
0.700 | CausalMutation | CLINVAR | Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. | 19880069 | 2009 | |||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 | |||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 | |||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. | 11133230 | 2001 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. | 24793961 | 2014 |