Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 GeneticVariation CLINVAR PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancer. 23633456

2013
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 GeneticVariation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 GeneticVariation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2011
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 GeneticVariation CLINVAR Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. 20533527

2010
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. 20533527

2010
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 GeneticVariation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 GeneticVariation CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800

2007
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800

2007
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302

2000
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 GeneticVariation CLINVAR Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302

2000
dbSNP: rs121913294
rs121913294
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 GeneticVariation CLINVAR PTEN mutations in gliomas and glioneuronal tumors. 9619835

1998