DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: MACROCEPHALY/AUTISM SYNDROME ×

Gene: PTEN ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

GeneticVariation

UNIPROT

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

26637798

2015

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

Biomarker

GENOMICS_ENGLAND

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

23160955

2012

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

GeneticVariation

UNIPROT

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

23160955

2012

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

GermlineCausalMutation

ORPHANET

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

19265751

2009

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

Biomarker

GENOMICS_ENGLAND

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

17286265

2007

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

GermlineCausalMutation

ORPHANET

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

17286265

2007

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

Biomarker

CTD_human

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

15805158

2005

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

GermlineCausalMutation

ORPHANET

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

15805158

2005

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

GeneticVariation

UNIPROT

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

15805158

2005

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

Biomarker

GENOMICS_ENGLAND

Multiple hamartoma syndrome (Cowden's disease).

4635800

1972

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

Biomarker

GENOMICS_ENGLAND

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.910

Biomarker

GENOMICS_ENGLAND