DisGeNET - a database of gene-disease associations

MACROCEPHALY/AUTISM SYNDROME, C1854416

Gene: PTEN ×

Source: UNIPROT ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909238

PTEN

0.800

GeneticVariation

UNIPROT

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

26637798

2015

dbSNP:

rs121909239

PTEN

0.800

GeneticVariation

UNIPROT

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

26637798

2015

dbSNP:

rs121909240

PTEN

0.800

GeneticVariation

UNIPROT

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

26637798

2015

dbSNP:

rs397514559

PTEN

0.800

GeneticVariation

UNIPROT

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

26637798

2015

dbSNP:

rs397514560

PTEN

0.800

GeneticVariation

UNIPROT

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

26637798

2015

dbSNP:

rs121909238

PTEN

0.800

GeneticVariation

UNIPROT

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

23160955

2012

dbSNP:

rs121909239

PTEN

0.800

GeneticVariation

UNIPROT

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

23160955

2012

dbSNP:

rs121909240

PTEN

0.800

GeneticVariation

UNIPROT

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

23160955

2012

dbSNP:

rs397514559

PTEN

0.800

GeneticVariation

UNIPROT

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

23160955

2012

dbSNP:

rs397514560

PTEN

0.800

GeneticVariation

UNIPROT

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

23160955

2012

dbSNP:

rs121909238

PTEN

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:

rs121909239

PTEN

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:

rs121909240

PTEN

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:

rs397514559

PTEN

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:

rs397514560

PTEN

0.800

GeneticVariation

UNIPROT

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

15805158

2005