rs1064793345, PTEN

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (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
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
MACROCEPHALY/AUTISM SYNDROME
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
MACROCEPHALY/AUTISM SYNDROME
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: 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
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: 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
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
0.010 GeneticVariation BEFREE We identified 27 variants, including the first reported compound heterozygous mutation (Glu240Lys and Leu489Pro) and a homozygous Leu347Pro mutation in 2 unrelated young-onset Parkinson disease patients. 15596610 2004