DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs1114167650 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1114167650

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.

20712882

2010

dbSNP:

rs1114167650

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.

16014636

2005

dbSNP:

rs1114167650

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.

10232405

1999

dbSNP:

rs1114167650

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

9467011

1998