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: 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		T 0.700 CausalMutation CLINVAR

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

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

dbSNP: rs121909219
rs121909219
PTEN
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		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: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		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: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		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: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		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: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C4531112
Disease: Penile freckling
Penile freckling 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 CausalMutation CLINVAR

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: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer. 18558293

2008
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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 28286253

2017
dbSNP: rs121909219
rs121909219
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840

2013
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 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: rs121909219
rs121909219
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934

2013