DisGeNET - a database of gene-disease associations

Multiple endocrine neoplasia Type 2, C4048306

Variant: rs79781594 ×

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:

rs79781594

RET

0.710

GeneticVariation

BEFREE

Two families with C618S/Y mutation were categorized as unclassified multiple endocrine neoplasia type 2.

26254625

2016

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese.

25628771

2015

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese.

25628771

2015

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma.

22068382

2012

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma.

22068382

2012

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.

21765987

2011

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.

20979234

2011

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.

20979234

2011

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.

20979234

2011

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.

20516206

2010

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

19258401

2009

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

18063059

2007

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618.

15164440

2004

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.

11230481

2001

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan.

9839497

1998

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene.

9498388

1998

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines.

9879991

1998

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma.

9699127

1998

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan.

9839497

1998

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines.

9879991

1998

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan.

9839497

1998

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene.

9498388

1998

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.

9384613

1998

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.

9384613

1998

dbSNP:

rs79781594

RET

0.710

CausalMutation

CLINVAR

RET in human development and oncogenesis.

9174404

1997