| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Cardiomyopathy, Hypertrophic, Familial
|
0.700 | CausalMutation | CLINVAR | Genetics of hypertrophic cardiomyopathy in Norway. | 24111713 | 2014 | |||||
Cardiomyopathy, Hypertrophic, Familial
|
0.700 | CausalMutation | CLINVAR | Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. | 23233322 | 2013 | |||||
Cardiomyopathy, Hypertrophic, Familial
|
0.700 | CausalMutation | CLINVAR | Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. | 23283745 | 2013 | |||||
Cardiomyopathy, Hypertrophic, Familial
|
0.700 | CausalMutation | CLINVAR | Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. | 24093860 | 2013 | |||||
Cardiomyopathy, Hypertrophic, Familial
|
0.700 | CausalMutation | CLINVAR | Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. | 22857948 | 2012 | |||||
Cardiomyopathy, Hypertrophic, Familial
|
0.700 | CausalMutation | CLINVAR | Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. | 20031618 | 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, Hypertrophic, Familial
|
0.700 | CausalMutation | CLINVAR | [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. | 17125710 | 2006 | |||||
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 | |||||
Cardiomyopathy, Hypertrophic, Familial
|
0.700 | CausalMutation | CLINVAR | The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. | 10521296 | 1999 | |||||
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 |