Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.130 GeneticVariation BEFREE Histologic and molecular findings of botryoid-type embryonal rhabdomyosarcoma (bERMS) and thyroid nodules from a 12-year-old DICER1 mutation carrier (p.Arg1060Ilefs*7) were investigated, providing interesting clues for understanding thyroid carcinogenesis. 29538609

2018

Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.130 Biomarker BEFREE DICER1 is a driver of pediatric thyroid nodules, and DICER1-mutated PTC may represent a distinct class of low-risk malignancies. 29474644

2018

Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.130 GeneticVariation BEFREE Somatic DICER1 RNase IIIb missense mutations were identified in thyroid nodules from three of the four siblings. 26555935

2016

Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.130 Biomarker HPO

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.120 GeneticVariation BEFREE We searched for germline mutations in PTEN in a 49-year-old female patient who presented trichilemmoma with previous history of breast carcinoma, and thyroidectomy for a thyroid nodule. 23295304

2012

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.120 GeneticVariation BEFREE In parents and siblings, PTEN test results were negative for mutations.Endocrine evaluation revealed an abnormal thyroid nodule on ultrasound. 20814261

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.120 CausalMutation CLINVAR

Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Seventeen patients underwent a thyroid nodule FNAB (results: 12 benign, one follicular neoplasm, three suspicious for malignancy, and one papillary thyroid cancer [PTC]), from which six underwent thyroidectomy; PTC was confirmed by surgical pathology for all cases (8.5% of all nodules observed). 31461359

2020

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Seventeen patients underwent a thyroid nodule FNAB (results: 12 benign, one follicular neoplasm, three suspicious for malignancy, and one papillary thyroid cancer [PTC]), from which six underwent thyroidectomy; PTC was confirmed by surgical pathology for all cases (8.5% of all nodules observed). 31461359

2020

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Seventeen patients underwent a thyroid nodule FNAB (results: 12 benign, one follicular neoplasm, three suspicious for malignancy, and one papillary thyroid cancer [PTC]), from which six underwent thyroidectomy; PTC was confirmed by surgical pathology for all cases (8.5% of all nodules observed). 31461359

2020

Entrez Id: 5726
Gene Symbol: TAS2R38
TAS2R38
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Seventeen patients underwent a thyroid nodule FNAB (results: 12 benign, one follicular neoplasm, three suspicious for malignancy, and one papillary thyroid cancer [PTC]), from which six underwent thyroidectomy; PTC was confirmed by surgical pathology for all cases (8.5% of all nodules observed). 31461359

2020

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Seventeen patients underwent a thyroid nodule FNAB (results: 12 benign, one follicular neoplasm, three suspicious for malignancy, and one papillary thyroid cancer [PTC]), from which six underwent thyroidectomy; PTC was confirmed by surgical pathology for all cases (8.5% of all nodules observed). 31461359

2020

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 Biomarker BEFREE BRAF prevalence among thyroid nodules with FNA read as SFM according to the most popular classification systems (i.e., Bethesda V, Thy4, TIR4 category) was searched.The random-effects model was used. 31811566

2020

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE ROC of the subject was constructed to evaluate the diagnostic value of these 2 methods and their combination.BRAF mutation in FNAC of thyroid nodules occurred in 2796 samples (57.35%). 31305422

2019

Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 AlteredExpression BEFREE Participants were further stratified into thyroid autoantibody positive group (at least one positive) and thyroid autoantibody negative group (both negative) according to the thyroglobulin antibody (TGAb) and thyroid peroxidase antibody (TPOAb) levels, and restricted cubic spline regression was also applied to determine the possible nonlinear relationship between urinary BPA and TNs. 30825751

2019

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 AlteredExpression BEFREE We aimed to determine the protein expression of BRAF, RAS, RET, insulin like growth factor 1(IGF1), Galectine 3, CD56 in patients with PTC related acromegaly and to compare the extensity of these expressions with normal PTC patients and benign thyroid nodules. 29890543

2019

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE We aimed to investigate the diagnostic value of the BRAF mutation in cytologically indeterminate thyroid nodules after the reclassification of a variant thyroid carcinoma. 30863114

2019

Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 Biomarker BEFREE We aimed to evaluate the effects of Tg on the function of Tregs in patients with thyroid nodules. 30822273

2019

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE BRAF mutation analysis by ARMS-PCR refines thyroid nodule management. 31441082

2019

Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 Biomarker BEFREE Thyroglobulin, age, pre-pregnancy body mass index, and iodine-excessive region were associated with TNs (odds ratio = 1.01, 1.06, 1.04, and 2.38, respectively). 30979661

2019

Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 AlteredExpression BEFREE We successfully established and validated a simple and reliable preoperative prediction model for FTC using the preoperative thyroglobulin level and ultrasonographic features of the thyroid nodules. 31050007

2019

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE The aim of this study was to estimate the diagnostic value of BRAF V600E mutation status combined with cytomorphological features for diagnosis of papillary thyroid cancer (PTC) in cytologically indeterminate thyroid nodules. 29566402

2019

Entrez Id: 796
Gene Symbol: CALCA
CALCA
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 Biomarker BEFREE When they arrived at our center for both the presence of thyroid nodules and elevated serum calcitonin values, the MTC was already metastatic, and the older patient had already developed a bilateral PHEO. 30597074

2019

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE TERT promoter and BRAF mutations were detected in 20/436 (4.6%) and 257/434 thyroid nodules (59.2%), respectively. 31042674

2019

Entrez Id: 796
Gene Symbol: CALCA
CALCA
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE We used pyrosequencing and quantitative real-time PCR (qRT-PCT) approaches to examine BRAF<sup>V600E</sup> mutation and TMPRSS4 mRNA level in FNAB specimens of thyroid nodules. 30518486

2018