PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: MACROCEPHALY/AUTISM SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909238
rs121909238
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1854416
Disease:
MACROCEPHALY/AUTISM SYNDROME 		0.800 GeneticVariation UNIPROT Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798 2015
dbSNP: rs121909238
rs121909238
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1854416
Disease:
MACROCEPHALY/AUTISM SYNDROME 		0.800 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
dbSNP: rs121909238
rs121909238
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1854416
Disease:
MACROCEPHALY/AUTISM SYNDROME 		0.800 GeneticVariation UNIPROT Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158 2005
dbSNP: rs121909238
rs121909238
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1854416
Disease:
MACROCEPHALY/AUTISM SYNDROME 		G 0.800 CausalMutation CLINVAR