PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: PTEN Hamartoma Tumor Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146650273
rs146650273
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. 26362251 2015
dbSNP: rs146650273
rs146650273
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes. 24102544 2014
dbSNP: rs146650273
rs146650273
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809 2013
dbSNP: rs146650273
rs146650273
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840 2013
dbSNP: rs146650273
rs146650273
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 10400993 1999
dbSNP: rs146650273
rs146650273
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. 9288766 1997