DisGeNET - a database of gene-disease associations

Medullary carcinoma of thyroid, C0238462

Gene: RET ×

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:

rs79658334

RET

0.800

GeneticVariation

CLINVAR

dbSNP:

rs1799939

RET

0.070

GeneticVariation

BEFREE

(3) The single-nucleotide polymorphisms (SNP) G691S in exon 11 (rs1799939), S904S in exon 15 (rs1800863), and rs2075912 and rs2565200 in the 3'-untranslated region of the RET proto-oncogene are in complete linkage disequilibrium (D' = 1, r2 = 1); no correlation of these SNP and MTC was observed in this pedigree.

27798940

2017

dbSNP:

rs1800863

RET

0.010

GeneticVariation

BEFREE

27798940

2017

dbSNP:

rs2075912

RET

0.010

GeneticVariation

BEFREE

27798940

2017

dbSNP:

rs2565200

RET

0.010

GeneticVariation

BEFREE

27798940

2017

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

MTC samples with the C634 RET mutation exhibited a higher expression of VEGFR3 and KIT than the M918T RET-mutated and non-mutated RET tumor samples (P=0.005 and P=0.007 respectively) and a lower expression of VEGFR1 (P=0.04).

23780998

2013

dbSNP:

rs377767429

RET

0.720

GeneticVariation

BEFREE

MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers.

28323957

2017

dbSNP:

rs121913306

RET

0.020

GeneticVariation

BEFREE

MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers.

28323957

2017

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers.

28323957

2017

dbSNP:

rs377767397

RET

0.020

GeneticVariation

BEFREE

Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.

12734540

2003

dbSNP:

rs377767398

RET

0.020

GeneticVariation

BEFREE

Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.

12734540

2003

dbSNP:

rs377767391

RET

0.010

GeneticVariation

BEFREE

Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.

12734540

2003

dbSNP:

rs75234356

RET

0.760

GeneticVariation

BEFREE

S891A mutation caused medullary thyroid cancer (MTC) in 69.4%, pheochromocytoma in 2.8%, and parathyroid hyperplasia in 8.3% of the 36 patients of this case series and in 63.5, 4.1, and 4.1%, respectively, for the entire groups of 74 patients.

20554711

2010

dbSNP:

rs76262710

RET

0.730

GeneticVariation

BEFREE

C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T.

9839497

1998

dbSNP:

rs79781594

RET

0.730

GeneticVariation

BEFREE

C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T.

9839497

1998

dbSNP:

rs75996173

RET

0.770

GeneticVariation

BEFREE

A 6 base pair (bp) deletion causing the loss of a cysteine residue at codon 634 and a mutation causing substitution from cysteine to tyrosine at codon 634 were detected in 2 sporadic MTCs as somatic events.

8556059

1995

dbSNP:

rs79658334

RET

0.800

GeneticVariation

BEFREE

A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.

23341727

2013

dbSNP:

rs377767429

RET

0.720

GeneticVariation

BEFREE

A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation.

21186952

2011

dbSNP:

rs121913306

RET

0.020

GeneticVariation

BEFREE

A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation.

21186952

2011

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation.

21186952

2011

dbSNP:

rs75076352

RET

0.800

GeneticVariation

BEFREE

A heterozygous TGC to CGC mutation of codon 634 (cysteine to arginine) was found in the PHAEO and medullary thyroid cancer from the MEN 2A patient.

7889627

1995

dbSNP:

rs34682185

RET

0.010

GeneticVariation

BEFREE

A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization.

20039896

2010

dbSNP:

rs777122776

RET

0.010

GeneticVariation

BEFREE

A novel germline variant p.Ala639Thr was detected in MTC patient, which was determined to be likely benign.

26321248

2015

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

A previous report suggested that the presence of a germline variant at RET codon 836 (S836S) was associated with the development of sporadic MTC and, furthermore, that the presence of S836S was highly correlated with somatic RET M918T mutation in the MTC.

11589684

2001

dbSNP:

rs79658334

RET

0.800

GeneticVariation

BEFREE

A SNP in exon 13 (L769L) may serve as a modifier in the development of simultaneous MTC and PTC, as well as presentation of MTC, in patients with the RET V804M mutation.

21134561

2010