rs121913294, PTEN

N. diseases: 14
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
0.700 CausalMutation CLINVAR
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
0.700 CausalMutation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 GeneticVariation CLINVAR
Nevus
CUI: C0027960
Disease: Nevus
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Attention deficit hyperactivity disorder
0.700 CausalMutation CLINVAR
Thyroid Diseases
CUI: C0040128
Disease: Thyroid Diseases
0.700 CausalMutation CLINVAR
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE Molecular analysis suggest that tumors from double myrAKT;p53(R172H) mice result from acceleration of initiated p53(R172H) tumors and not from bypass of AKT-induced oncogenic senescence. 20174572 2010
Tumor Promotion
CUI: C1519689
Disease: Tumor Promotion
0.010 GeneticVariation BEFREE Finally, we analyzed the impact that a possible senescent checkpoint might have in the tumor promotion inhibition observed, crossing these lines to mammary specific p53(R172H) mutant expression, and to p27 knock-out mice. 20174572 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE However, p53 inactivation by R172H point mutation combined with myrAKT transgenic expression significantly increased the percentage and size of mammary carcinoma observed, but was not sufficient to promote full penetrance of the tumorigenic phenotype. 20174572 2010