rs1085308056, PTEN

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751 2009
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
0.700 CausalMutation CLINVAR
Penile freckling
CUI: C4531112
Disease: Penile freckling
0.700 CausalMutation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
0.700 CausalMutation CLINVAR
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
0.700 CausalMutation CLINVAR
Anxiety
CUI: C0003467
Disease: Anxiety
0.700 CausalMutation CLINVAR
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 CausalMutation CLINVAR