Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Cerebellar Granule Cell Hypertrophy and Megalencephaly
|
0.700 | GeneticVariation | CLINVAR | Lifetime cancer risks in individuals with germline PTEN mutations. | 22252256 | 2012 | |||||
Lhermitte-Duclos disease
|
0.700 | GeneticVariation | CLINVAR | Lifetime cancer risks in individuals with germline PTEN mutations. | 22252256 | 2012 | |||||
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
0.700 | GeneticVariation | CLINVAR | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. | 22595938 | 2012 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | GeneticVariation | CLINVAR | Lifetime cancer risks in individuals with germline PTEN mutations. | 22252256 | 2012 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | GeneticVariation | CLINVAR | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. | 22595938 | 2012 | |||||
MACROCEPHALY/AUTISM SYNDROME
|
0.700 | GeneticVariation | CLINVAR | Lifetime cancer risks in individuals with germline PTEN mutations. | 22252256 | 2012 | |||||
Proteus-Like Syndrome (disorder)
|
0.700 | GeneticVariation | CLINVAR | Lifetime cancer risks in individuals with germline PTEN mutations. | 22252256 | 2012 | |||||
Large head (disorder)
|
0.700 | GeneticVariation | CLINVAR | Lifetime cancer risks in individuals with germline PTEN mutations. | 22252256 | 2012 | |||||
Hamartoma Syndrome, Multiple
|
0.700 | GeneticVariation | CLINVAR | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. | 22595938 | 2012 | |||||
CEREBELLOPARENCHYMAL DISORDER VI
|
0.700 | GeneticVariation | CLINVAR | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. | 22595938 | 2012 | |||||
Large head (disorder)
|
0.700 | GeneticVariation | CLINVAR | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. | 22595938 | 2012 | |||||
Autistic Disorder
|
0.700 | GeneticVariation | CLINVAR | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. | 22595938 | 2012 | |||||
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
0.700 | GeneticVariation | CLINVAR | Lifetime cancer risks in individuals with germline PTEN mutations. | 22252256 | 2012 | |||||
Cerebellar Granule Cell Hypertrophy and Megalencephaly
|
0.700 | GeneticVariation | CLINVAR | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. | 22595938 | 2012 | |||||
Lhermitte-Duclos disease
|
0.700 | GeneticVariation | CLINVAR | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. | 22595938 | 2012 | |||||
MACROCEPHALY/AUTISM SYNDROME
|
0.700 | GeneticVariation | CLINVAR | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. | 22595938 | 2012 | |||||
CEREBELLOPARENCHYMAL DISORDER VI
|
0.700 | GeneticVariation | CLINVAR | Lifetime cancer risks in individuals with germline PTEN mutations. | 22252256 | 2012 | |||||
Hamartoma Syndrome, Multiple
|
0.700 | GeneticVariation | CLINVAR | Lifetime cancer risks in individuals with germline PTEN mutations. | 22252256 | 2012 | |||||
Proteus-Like Syndrome (disorder)
|
0.700 | GeneticVariation | CLINVAR | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. | 22595938 | 2012 | |||||
Autistic Disorder
|
0.700 | GeneticVariation | CLINVAR | Lifetime cancer risks in individuals with germline PTEN mutations. | 22252256 | 2012 |