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: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396

1997
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396

1997
dbSNP: rs121909219
rs121909219
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266

1997
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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.700 CausalMutation CLINVAR Inactivation of the PTEN/MMAC1/TEP1 gene in human lung cancers. 9598803

1998
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 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: rs121909219
rs121909219
PTEN
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148

1999