| 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 | CLINVAR | Child abuse and neglect: a study of cases reported to Douglas County Child Protective Service from 1967-1973. | 1186938 | 1975 | |||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation. | 1638703 | 1992 | |||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy. | 1417858 | 1992 | |||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. | 8268932 | 1993 | |||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. | 8282798 | 1994 | |||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | CLINVAR | Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. | 7581410 | 1995 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. | 7581410 | 1995 | |||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy. | 8899546 | 1996 | |||||
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. | 9829907 | 1998 |