DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Multiple Endocrine Neoplasia Type 1 ×

Variant: rs794728615 ×

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:

rs794728615

MEN1

CUI:	C0025267
Disease:	Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 1

0.710

CausalMutation

CLINVAR

p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

24997771

2014

dbSNP:

rs794728615

MEN1

CUI:	C0025267
Disease:	Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 1

0.710

CausalMutation

CLINVAR

Novel association of thymic carcinoid with a germline mutation in a kindred with multiple endocrine neoplasia 1 (MEN1).

22549346

2012

dbSNP:

rs794728615

MEN1

CUI:	C0025267
Disease:	Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 1

0.710

CausalMutation

CLINVAR

Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.

9832038

1998

dbSNP:

rs794728615

MEN1

CUI:	C0025267
Disease:	Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 1

0.710

CausalMutation

CLINVAR

We identified a novel nonsense mutation(R29X) of the MEN1 gene in a familial multiple endocrine neoplasia type 1 (MEN1) patient.

10395246

1998

dbSNP:

rs794728615

MEN1

CUI:	C0025267
Disease:	Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 1

0.710

GeneticVariation

BEFREE

We identified a novel nonsense mutation(R29X) of the MEN1 gene in a familial multiple endocrine neoplasia type 1 (MEN1) patient.

10395246

1998