rs1085308041, PTEN

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 GeneticVariation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 GeneticVariation CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761 2017
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347 2011
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 GeneticVariation CLINVAR Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. 19968660 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. 19968660 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751 2009
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 GeneticVariation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751 2009
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 GeneticVariation CLINVAR Analysis of the PTEN gene mutation in polyposis syndromes and sporadic gastrointestinal tumors in Japanese patients. 11052475 2000
Penile freckling
CUI: C4531112
Disease: Penile freckling
0.700 CausalMutation CLINVAR
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Lipoma
CUI: C0023798
Disease: Lipoma
0.700 CausalMutation CLINVAR
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
0.700 CausalMutation CLINVAR