Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909219
rs121909219
PTEN
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963

2004
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR PIK3CA mutations predict local recurrences in rectal cancer patients. 19903786

2009
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. 20619739

2010
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer. 19366826

2009
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582

2012
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors. 22162589

2012
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.710 CausalMutation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.710 CausalMutation CLINVAR Mutations of the human PTEN gene. 10923032

2000
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.710 CausalMutation CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.710 CausalMutation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0349604
Disease: Intracranial Meningioma
Intracranial Meningioma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C0023798
Disease: Lipoma
Lipoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR. 11504908

2001