DisGeNET - a database of gene-disease associations

Multiple Endocrine Neoplasia Type 1, C0025267

Variant: rs1060499974 ×

Source: ALL

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:

rs1060499974

MEN1 ; MAP4K2

0.700

CausalMutation

CLINVAR

Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1.

25824098

2015

dbSNP:

rs1060499974

MEN1 ; MAP4K2

0.700

CausalMutation

CLINVAR

Multiple endocrine neoplasia type 1 (MEN1).

20833329

2010

dbSNP:

rs1060499974

MEN1 ; MAP4K2

0.700

CausalMutation

CLINVAR

Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1.

17555499

2007

dbSNP:

rs1060499974

MEN1 ; MAP4K2

0.700

CausalMutation

CLINVAR

Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.

15670192

2005

dbSNP:

rs1060499974

MEN1 ; MAP4K2

0.700

CausalMutation

CLINVAR

Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.

11836268

2002

dbSNP:

rs1060499974

MEN1 ; MAP4K2

0.700

CausalMutation

CLINVAR

A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation.

9329390

1997

dbSNP:

rs1060499974

MEN1 ; MAP4K2

0.700

CausalMutation

CLINVAR

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

9215690

1997