Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.700 GeneticVariation CLINVAR PTEN in colorectal cancer: a report on two Cowden syndrome patients. 21291452

2012
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		G 0.700 GeneticVariation CLINVAR PTEN in colorectal cancer: a report on two Cowden syndrome patients. 21291452

2012
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.700 GeneticVariation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2011
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		G 0.700 GeneticVariation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2011
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		G 0.700 GeneticVariation CLINVAR Tumour suppressor PTEN regulates cell cycle and protein kinase B/Akt pathway in breast cancer cells. 16619501

2006
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.700 GeneticVariation CLINVAR Tumour suppressor PTEN regulates cell cycle and protein kinase B/Akt pathway in breast cancer cells. 16619501

2006
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.700 GeneticVariation CLINVAR PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome. 11918710

2002
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		G 0.700 GeneticVariation CLINVAR PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome. 11918710

2002
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.700 GeneticVariation CLINVAR Cell cycle arrest by the PTEN tumor suppressor is target cell specific and may require protein phosphatase activity. 10772829

2000
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		G 0.700 GeneticVariation CLINVAR Cell cycle arrest by the PTEN tumor suppressor is target cell specific and may require protein phosphatase activity. 10772829

2000
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.700 GeneticVariation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148

1999
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		G 0.700 GeneticVariation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148

1999
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		G 0.700 GeneticVariation CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		G 0.700 GeneticVariation CLINVAR P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. 9256433

1997
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.700 GeneticVariation CLINVAR P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. 9256433

1997
dbSNP: rs786204931
rs786204931
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.700 GeneticVariation CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997