DisGeNET - a database of gene-disease associations

Source: UNIPROT

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

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

GeneticVariation

UNIPROT

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

15805158

2005