NMTC2
MCID: THY102
MIFTS: 61

Thyroid Cancer, Nonmedullary, 2 (NMTC2)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Thyroid Cancer, Nonmedullary, 2

MalaCards integrated aliases for Thyroid Cancer, Nonmedullary, 2:

Name: Thyroid Cancer, Nonmedullary, 2 57
Follicular Thyroid Carcinoma 12 53 29 6 15 73
Thyroid Carcinoma, Follicular 57 76 53 13
Thyroid Cancer, Follicular 53 73
Nmtc2 57 75
Follicular Adenocarcinoma, Well Differentiated 12
Follicular Carcinoma of the Thyroid Gland 12
Thyroid Carcinoma, Follicular, Somatic 57
Cancer, Thyroid, Nonmedullary, Type 2 40
Thyroid Cancer, Non-Medullary, 2 75
Thyroid Follicular Carcinoma 55
Thyroid Gland Adenocarcinoma 73
Adenocarcinoma, Follicular 44
Follicular Adenocarcinoma 12
Follicular Thyroid Cancer 55
Thyroid Adenocarcinoma 12
Follicular Carcinoma 12
Ftc 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
thyroid cancer, nonmedullary, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 188470
Disease Ontology 12 DOID:3962
NCIt 50 C8054
SNOMED-CT 68 28173006 5257006
SNOMED-CT via HPO 69 263681008 255028004

Summaries for Thyroid Cancer, Nonmedullary, 2

OMIM : 57 Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100, Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009). Follicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria (summary by Bonora et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (188550). (188470)

MalaCards based summary : Thyroid Cancer, Nonmedullary, 2, also known as follicular thyroid carcinoma, is related to differentiated thyroid carcinoma and hyperthyroidism. An important gene associated with Thyroid Cancer, Nonmedullary, 2 is SRGAP1 (SLIT-ROBO Rho GTPase Activating Protein 1), and among its related pathways/superpathways are Focal Adhesion and Glioma. Affiliated tissues include thyroid, bone and lymph node, and related phenotypes are abnormality of metabolism/homeostasis and follicular thyroid carcinoma

Disease Ontology : 12 A thyroid carcinoma that has material basis in follicular cells.

UniProtKB/Swiss-Prot : 75 Thyroid cancer, non-medullary, 2: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.

Wikipedia : 76 Follicular thyroid cancer or follicular thyroid carcinoma accounts for 15% of thyroid cancer and occurs... more...

Related Diseases for Thyroid Cancer, Nonmedullary, 2

Diseases in the Thyroid Cancer, Nonmedullary, 2 family:

Thyroid Cancer, Nonmedullary, 1 Thyroid Cancer, Nonmedullary, 3
Thyroid Cancer, Nonmedullary, 4 Thyroid Cancer, Nonmedullary, 5

Diseases related to Thyroid Cancer, Nonmedullary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 differentiated thyroid carcinoma 32.5 TSHR TG RET PPARG PAX8 NRAS
2 hyperthyroidism 30.7 TG THRB TSHR
3 goiter 30.6 CALCA LGALS3 NKX2-1 PAX8 TG THRB
4 graves' disease 30.6 DIO2 TG THRB TSHR
5 multinodular goiter 30.4 CALCA HRAS NKX2-1 PAX8 TG TSHR
6 papillary carcinoma 30.4 RET TG TSHR PAX8 NKX2-1 LGALS3
7 cowden disease 30.2 CALCA PTEN RET TG
8 graves disease 1 30.2 DIO2 TG THRB TSHR
9 thyroid carcinoma, familial medullary 30.2 CALCA NKX2-1 RET TG
10 struma ovarii 30.1 BRAF NKX2-1 RET TG TSHR
11 thyroiditis 30.1 CALCA RET TG THRB TSHR
12 adenocarcinoma 30.1 BRAF HRAS KDR PTEN RET
13 malignant struma ovarii 30.1 HRAS LGALS3 NKX2-1 NRAS RET TG
14 nontoxic goiter 30.0 CALCA TG TSHR
15 ovarian germ cell teratoma 29.9 NKX2-1 NRAS RET TG
16 renal cell carcinoma, papillary, 1 29.9 BRAF HRAS NRAS PAX8 PTEN
17 follicular adenoma 29.9 TSHR TG RET PTEN PAX8 NKX2-1
18 gastric adenocarcinoma 29.9 BRAF HRAS KDR NRAS PTEN
19 anaplastic thyroid cancer 29.9 BRAF NKX2-1 PAX8 PTEN TG
20 hypothyroidism 29.6 CALCA DIO2 NKX2-1 PAX8 RET TG
21 thyroid cancer 29.4 TSHR THRB TG SRGAP1 RET PTEN
22 familial papillary or follicular thyroid carcinoma 12.3
23 trabecular follicular adenocarcinoma 12.2
24 papillary follicular thyroid adenocarcinoma 12.1
25 tumoral calcinosis, hyperphosphatemic, familial, 1 11.7
26 thyroid carcinoma, hurthle cell 11.2
27 tumoral calcinosis, hyperphosphatemic, familial, 2 11.1
28 tumoral calcinosis, hyperphosphatemic, familial, 3 11.1
29 giant congenital nevus 10.4 HRAS NRAS
30 ovarian melanoma 10.4 HRAS NRAS PTEN
31 acral lentiginous melanoma 10.3 BRAF NRAS PTEN
32 thyroid cancer, nonmedullary, 1 10.3
33 mucoepidermoid thyroid carcinoma 10.3 CALCA TG
34 chromosome 14q11-q22 deletion syndrome 10.3 HRAS NKX2-1
35 neonatal hypothyroidism 10.3 PAX8 TG TSHR
36 ovarian serous cystadenocarcinoma 10.3 BRAF HRAS NRAS
37 suppurative thyroiditis 10.3 CALCA TG
38 leukemia, chronic lymphocytic 2 10.3 BRAF HRAS NRAS
39 ovarian germ cell cancer 10.3 NKX2-1 RET TG
40 giant cell glioblastoma 10.3 BRAF PPARG PTEN
41 colloid adenoma 10.3 LGALS3 NKX2-1 TG
42 thyroid sarcoma 10.3 CALCA TG
43 schimmelpenning-feuerstein-mims syndrome 10.3 HRAS NRAS
44 testicular germ cell tumor 10.3 BRAF HRAS PTEN
45 toxic diffuse goiter 10.3 DIO2 TG TSHR
46 ovarian cystic teratoma 10.3 CALCA NKX2-1 TG
47 melanoma, cutaneous malignant 1 10.3 BRAF HRAS NRAS PTEN
48 water-clear cell adenoma 10.3 PAX8 TG
49 respiratory system cancer 10.3 HRAS NKX2-1 PTEN
50 small cell carcinoma 10.3 CALCA NKX2-1 PTEN

Graphical network of the top 20 diseases related to Thyroid Cancer, Nonmedullary, 2:



Diseases related to Thyroid Cancer, Nonmedullary, 2

Symptoms & Phenotypes for Thyroid Cancer, Nonmedullary, 2

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
nonmedullary thyroid carcinoma (papillary and follicular)


Clinical features from OMIM:

188470

Human phenotypes related to Thyroid Cancer, Nonmedullary, 2:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 follicular thyroid carcinoma 32 HP:0006731
3 non-medullary thyroid carcinoma 32 HP:0040198

GenomeRNAi Phenotypes related to Thyroid Cancer, Nonmedullary, 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.03 HRAS
2 Decreased viability GR00221-A-1 10.03 HRAS KDR NRAS PPARG RET
3 Decreased viability GR00221-A-2 10.03 HRAS KDR PPARG RET
4 Decreased viability GR00221-A-3 10.03 HRAS KDR NRAS PPARG
5 Decreased viability GR00221-A-4 10.03 KDR PPARG RET
6 Decreased viability GR00231-A 10.03 RET
7 Decreased viability GR00301-A 10.03 RET
8 Decreased viability GR00402-S-2 10.03 HRAS KDR NRAS PPARG RET
9 Reduced mammosphere formation GR00396-S 9.17 BRAF HRAS KDR NRAS PAX8 PPARG

MGI Mouse Phenotypes related to Thyroid Cancer, Nonmedullary, 2:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.38 BRAF DIO2 HRAS KDR LGALS3 NKX2-1
2 behavior/neurological MP:0005386 10.36 BRAF HRAS KDR LGALS3 NKX2-1 NRAS
3 homeostasis/metabolism MP:0005376 10.36 BRAF DIO2 HRAS KDR LGALS3 NKX2-1
4 endocrine/exocrine gland MP:0005379 10.33 BRAF DIO2 HRAS NKX2-1 NRAS PAX8
5 cardiovascular system MP:0005385 10.32 BRAF HRAS KDR LGALS3 NKX2-1 NRAS
6 cellular MP:0005384 10.31 BRAF KDR LGALS3 NKX2-1 NRAS PAX8
7 digestive/alimentary MP:0005381 10.26 BRAF DIO2 HRAS LGALS3 NKX2-1 NRAS
8 mortality/aging MP:0010768 10.26 BRAF HRAS KDR LGALS3 NKX2-1 NRAS
9 hematopoietic system MP:0005397 10.22 BRAF KDR LGALS3 NRAS PPARG PTEN
10 nervous system MP:0003631 10.21 BRAF HRAS KDR LGALS3 NKX2-1 PAX8
11 neoplasm MP:0002006 10.16 BRAF HRAS LGALS3 NKX2-1 NRAS PPARG
12 limbs/digits/tail MP:0005371 10.1 BRAF NRAS PAX8 PTEN RET TG
13 adipose tissue MP:0005375 10.07 BRAF DIO2 LGALS3 PPARG PTEN TG
14 normal MP:0002873 10.07 BRAF HRAS KDR MINPP1 NKX2-1 NRAS
15 no phenotypic analysis MP:0003012 10.01 HRAS KDR NKX2-1 NRAS PAX8 PPARG
16 renal/urinary system MP:0005367 9.92 BRAF DIO2 HRAS LGALS3 PAX8 PPARG
17 reproductive system MP:0005389 9.91 BRAF LGALS3 NKX2-1 PAX8 PPARG PTEN
18 skeleton MP:0005390 9.77 BRAF DIO2 HRAS KDR LGALS3 NKX2-1
19 respiratory system MP:0005388 9.76 BRAF HRAS KDR LGALS3 NKX2-1 PTEN
20 vision/eye MP:0005391 9.23 BRAF KDR NRAS PAX8 PPARG PTEN

Drugs & Therapeutics for Thyroid Cancer, Nonmedullary, 2

Search Clinical Trials , NIH Clinical Center for Thyroid Cancer, Nonmedullary, 2

Cochrane evidence based reviews: adenocarcinoma, follicular

Genetic Tests for Thyroid Cancer, Nonmedullary, 2

Genetic tests related to Thyroid Cancer, Nonmedullary, 2:

# Genetic test Affiliating Genes
1 Follicular Thyroid Carcinoma 29 HRAS MINPP1 NRAS SRGAP1

Anatomical Context for Thyroid Cancer, Nonmedullary, 2

MalaCards organs/tissues related to Thyroid Cancer, Nonmedullary, 2:

41
Thyroid, Bone, Lymph Node, Lung, Skin, Pituitary, Kidney

Publications for Thyroid Cancer, Nonmedullary, 2

Articles related to Thyroid Cancer, Nonmedullary, 2:

(show top 50) (show all 425)
# Title Authors Year
1
Tumour growth rate of follicular thyroid carcinoma is not different from that of follicular adenoma. ( 29509975 )
2018
2
A six-gene panel to label follicular adenoma, low- and high-risk follicular thyroid carcinoma. ( 29298844 )
2018
3
Pulmonary metastasis of mesonephric-like adenocarcinoma arising from the uterine body: a striking mimicry of follicular thyroid carcinoma. ( 30471132 )
2018
4
Pulmonary Vein Thrombosis Associated with Metastatic Follicular Thyroid Carcinoma: A Case Report and Review. ( 30112241 )
2018
5
Clinicopathologic and Molecular Features of Metastatic Follicular Thyroid Carcinoma in Patients Presenting With a Thyroid Nodule Versus a Distant Metastasis. ( 30557173 )
2018
6
Thick tumor capsule is a valuable risk factor for distant metastasis in follicular thyroid carcinoma. ( 28506522 )
2018
7
Comparison of clinical characteristics of patients with follicular thyroid carcinoma and Hürthle cell carcinoma. ( 29433918 )
2018
8
LncRNA HCP5 promotes follicular thyroid carcinoma progression via miRNAs sponge. ( 29515098 )
2018
9
Bone metastases without primary tumor: A well-differentiated follicular thyroid carcinoma case. ( 29516937 )
2018
10
Importance of Number of Foci of Capsular Invasion in Follicular Thyroid Carcinoma. ( 29563727 )
2018
11
Overt Skeletal Metastases in a Patient of Occult (Microscopic) Follicular Thyroid Carcinoma: a Rare Case. ( 29563739 )
2018
12
CXCR4/CXCR7/CXCL12-Axis in Follicular Thyroid Carcinoma. ( 29581772 )
2018
13
Case report: Whole exome sequencing of circulating cell-free tumor DNA in a follicular thyroid carcinoma patient with lung and bone metastases. ( 29623111 )
2018
14
Follicular Thyroid Carcinoma in a Country of Endemic Iodine Deficiency (1994-2013). ( 29682275 )
2018
15
Comprehensive Genetic Analysis of Follicular Thyroid Carcinoma Predicts Prognosis Independent of Histology. ( 29726952 )
2018
16
A Case of Functional Metastatic Follicular Thyroid Carcinoma that Presented with Hip Fracture and Hypercalcemia. ( 29930932 )
2018
17
Surgical management of follicular thyroid carcinoma in children and adolescents: A study of 30 cases. ( 29935896 )
2018
18
Follicular Thyroid Carcinoma: A Perspective. ( 30039751 )
2018
19
Follicular thyroid carcinoma within a thyroglossal duct cyst in adult. ( 30078030 )
2018
20
Neck Ultrasound in Patients with Follicular Thyroid Carcinoma. ( 30088223 )
2018
21
Calcaneus Metastasis from Follicular Thyroid Carcinoma 12 Years after Total Thyroidectomy. ( 30228920 )
2018
22
TERT Immunohistochemistry Is a Poor Predictor of TERT Promoter Mutations and Gene Expression in Follicular Thyroid Carcinoma. ( 30306386 )
2018
23
Preoperative sonographic features of follicular thyroid carcinoma predict biological behavior: A retrospective study. ( 30313115 )
2018
24
A Cardiac Metastasis of Follicular Thyroid Carcinoma With Partly Squamous Cell Differentiation: Detection in FDG-PET Preceded Visibility on Echocardiography and MRI by More Than a Year. ( 30325815 )
2018
25
Eighth edition of tumor-node-metastasis staging system improve survival predictability for papillary, but not follicular thyroid carcinoma: A multicenter cohort study. ( 30527251 )
2018
26
Cutaneous metastasis from Hürthle cell follicular thyroid carcinoma. ( 30551968 )
2018
27
An upper cervical cord compression secondary to occult follicular thyroid carcinoma metastases successfully treated with multiple radioiodine therapies: A clinical case report. ( 29019888 )
2017
28
miR-146a and miR-146b promote proliferation, migration and invasion of follicular thyroid carcinoma via inhibition of ST8SIA4. ( 28427206 )
2017
29
A case of metastatic follicular thyroid carcinoma complicated with Graves' disease after total thyroidectomy. ( 28883260 )
2017
30
Prognostic Impact of Further Treatments on Distant Metastasis in Patients With Minimally Invasive Follicular Thyroid Carcinoma: Verification Using Inverse Probability of Treatment Weighting. ( 27272481 )
2017
31
Metastatic follicular thyroid carcinoma: a case report. ( 27384017 )
2017
32
Patterns of metastasis in follicular thyroid carcinoma and the difference between early and delayed presentation. ( 27659362 )
2017
33
Prognostic Impact of Further Treatments on Distant Metastasis in Patients with Minimally Invasive Follicular Thyroid Carcinoma: Verification Using Inverse Probability of Treatment Weighting. ( 27778073 )
2017
34
The total number of tissue blocks per centimetre of tumor significantly correlated with the risk of distant metastasis in patients with minimally invasive follicular thyroid carcinoma. ( 27928729 )
2017
35
Preoperative serum thyroglobulin and changes in serum thyroglobulin during TSH suppression independently predict follicular thyroid carcinoma in thyroid nodules with a cytological diagnosis of follicular lesion. ( 27936964 )
2017
36
Prognostic Impact of Further Treatments on Distant Metastasis in Patients with Minimally Invasive Follicular Thyroid Carcinoma: Verification Using Inverse Probability of Treatment Weighting. ( 28101608 )
2017
37
Follicular thyroid carcinoma presenting with pathological fracture of the humerus at initial diagnosis. ( 28108635 )
2017
38
Frontal bone metastasis from an occult follicular thyroid carcinoma: Diagnosed by FNAC. ( 28182063 )
2017
39
A 'silent' skull metastatic follicular thyroid carcinoma mimicking as a benign scalp tumor in a pregnant woman. ( 28203373 )
2017
40
Postoperative ultrasonography surveillance in patients with follicular thyroid carcinoma: a multicenter study. ( 28293811 )
2017
41
Follicular thyroid carcinoma metastasis to the facial skeleton: a systematic review. ( 28351395 )
2017
42
Metastatic Follicular Thyroid Carcinoma and the Primary Thyroid Gross Examination: Institutional Review of Cases from 1990 to 2015. ( 28444500 )
2017
43
Paediatric follicular thyroid carcinoma - indolent cancer with low prevalence of RAS mutations and absence of PAX8-PPARG fusion in a Japanese population. ( 28621837 )
2017
44
Follicular Thyroid Carcinoma Presenting as Large Solitary Vertebral Metastasis: Report of Two Unusual Cases Treated with Radiotherapy. ( 28695175 )
2017
45
Survivin and XIAP - two potential biological targets in follicular thyroid carcinoma. ( 28900184 )
2017
46
The role of prospero homeobox 1 (PROX1) expression in follicular thyroid carcinoma cells. ( 29371975 )
2017
47
Acute paraparesis as presentation of an occult follicular thyroid carcinoma: A case report. ( 29546026 )
2017
48
PVALB diminishes [Ca2+] and alters mitochondrial features in follicular thyroid carcinoma cells through AKT/GSK3I^ pathway. ( 27458244 )
2016
49
Follicular thyroid carcinoma in a male adolescent with Williams-Beuren syndrome. ( 27116698 )
2016
50
ST6GalNAcII mediates tumor invasion through PI3K/Akt/NF-I_B signaling pathway in follicular thyroid carcinoma. ( 26820593 )
2016

Variations for Thyroid Cancer, Nonmedullary, 2

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Cancer, Nonmedullary, 2:

75
# Symbol AA change Variation ID SNP ID
1 HRAS p.Gln61Lys VAR_045979 rs28933406
2 MINPP1 p.Ser41Leu VAR_022836 rs119486096
3 MINPP1 p.Gln270Arg VAR_022837 rs104894171
4 NRAS p.Gln61Arg VAR_006847 rs11554290
5 SRGAP1 p.Gln149His VAR_075879 rs781626187
6 SRGAP1 p.Ala275Thr VAR_075880 rs797044990
7 SRGAP1 p.Arg617Cys VAR_075882 rs114817817
8 SRGAP1 p.His875Arg VAR_075883 rs61754221

ClinVar genetic disease variations for Thyroid Cancer, Nonmedullary, 2:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 MINPP1 NM_004897.4(MINPP1): c.122C> T (p.Ser41Leu) single nucleotide variant Pathogenic rs119486096 GRCh37 Chromosome 10, 89264794: 89264794
2 MINPP1 NM_004897.4(MINPP1): c.122C> T (p.Ser41Leu) single nucleotide variant Pathogenic rs119486096 GRCh38 Chromosome 10, 87505037: 87505037
3 MINPP1 NM_004897.4(MINPP1): c.809A> G (p.Gln270Arg) single nucleotide variant Pathogenic rs104894171 GRCh37 Chromosome 10, 89268264: 89268264
4 MINPP1 NM_004897.4(MINPP1): c.809A> G (p.Gln270Arg) single nucleotide variant Pathogenic rs104894171 GRCh38 Chromosome 10, 87508507: 87508507
5 HRAS NM_005343.3(HRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic rs28933406 GRCh37 Chromosome 11, 533875: 533875
6 HRAS NM_005343.3(HRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic rs28933406 GRCh38 Chromosome 11, 533875: 533875
7 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
8 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
9 BRAF NM_004333.4(BRAF): c.1801A> G (p.Lys601Glu) single nucleotide variant Pathogenic rs121913364 GRCh37 Chromosome 7, 140453134: 140453134
10 BRAF NM_004333.4(BRAF): c.1801A> G (p.Lys601Glu) single nucleotide variant Pathogenic rs121913364 GRCh38 Chromosome 7, 140753334: 140753334
11 PTEN NM_000314.6(PTEN): c.235G> A (p.Ala79Thr) single nucleotide variant Likely benign rs202004587 GRCh37 Chromosome 10, 89690828: 89690828
12 PTEN NM_000314.6(PTEN): c.235G> A (p.Ala79Thr) single nucleotide variant Likely benign rs202004587 GRCh38 Chromosome 10, 87931071: 87931071
13 PTEN NM_000314.6(PTEN): c.882T> G (p.Ser294Arg) single nucleotide variant Uncertain significance rs143335584 GRCh37 Chromosome 10, 89720731: 89720731
14 PTEN NM_000314.6(PTEN): c.882T> G (p.Ser294Arg) single nucleotide variant Uncertain significance rs143335584 GRCh38 Chromosome 10, 87960974: 87960974
15 PTEN NM_000314.6(PTEN): c.892C> G (p.Gln298Glu) single nucleotide variant Uncertain significance rs371387815 GRCh37 Chromosome 10, 89720741: 89720741
16 PTEN NM_000314.6(PTEN): c.892C> G (p.Gln298Glu) single nucleotide variant Uncertain significance rs371387815 GRCh38 Chromosome 10, 87960984: 87960984
17 SRGAP1 NM_020762.3(SRGAP1): c.447A> C (p.Gln149His) single nucleotide variant Pathogenic rs781626187 GRCh38 Chromosome 12, 64016970: 64016970
18 SRGAP1 NM_020762.3(SRGAP1): c.447A> C (p.Gln149His) single nucleotide variant Pathogenic rs781626187 GRCh37 Chromosome 12, 64410750: 64410750
19 SRGAP1 NM_020762.3(SRGAP1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs797044990 GRCh37 Chromosome 12, 64456718: 64456718
20 SRGAP1 NM_020762.3(SRGAP1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs797044990 GRCh38 Chromosome 12, 64062938: 64062938
21 SRGAP1 NM_020762.3(SRGAP1): c.1849C> T (p.Arg617Cys) single nucleotide variant risk factor rs114817817 GRCh37 Chromosome 12, 64502747: 64502747
22 SRGAP1 NM_020762.3(SRGAP1): c.1849C> T (p.Arg617Cys) single nucleotide variant risk factor rs114817817 GRCh38 Chromosome 12, 64108967: 64108967
23 PTEN NM_000314.6(PTEN): c.672del (p.Tyr225Ilefs) deletion Pathogenic GRCh38 Chromosome 10, 87957890: 87957890
24 PTEN NM_000314.6(PTEN): c.672del (p.Tyr225Ilefs) deletion Pathogenic GRCh37 Chromosome 10, 89717647: 89717647

Cosmic variations for Thyroid Cancer, Nonmedullary, 2:

9 (show top 50) (show all 337)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM26419 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1897G>T p.D633Y 14:81143955-81143955 32
2 COSM26455 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1891T>A p.F631I 14:81143949-81143949 32
3 COSM26485 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1894A>G p.T632A 14:81143952-81143952 32
4 COSM26418 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1895C>T p.T632I 14:81143953-81143953 32
5 COSM26450 TSHR thyroid,NS,carcinoma,follicular carcinoma c.1456A>T p.I486F 14:81143514-81143514 32
6 COSM10656 TP53 thyroid,NS,carcinoma,follicular carcinoma c.742C>T p.R248W 17:7674221-7674221 32
7 COSM43624 TP53 thyroid,NS,carcinoma,follicular carcinoma c.875A>G p.K292R 17:7673745-7673745 32
8 COSM6943090 STAG2 thyroid,NS,carcinoma,follicular carcinoma c.1100T>G p.F367C 23:124051203-124051203 32
9 COSM5880107 SMAD4 thyroid,NS,carcinoma,follicular carcinoma c.1060G>C p.V354L 18:51065527-51065527 32
10 COSM5546625 SMAD4 thyroid,NS,carcinoma,follicular carcinoma c.767A>T p.Q256L 18:51058224-51058224 32
11 COSM1570338 RET thyroid,NS,carcinoma,follicular carcinoma c.2651A>T p.E884V 10:43120124-43120124 32
12 COSM5546623 RB1 thyroid,NS,carcinoma,follicular carcinoma c.2039T>C p.I680T 13:48459766-48459766 32
13 COSM23652 PTEN thyroid,NS,carcinoma,follicular carcinoma c.496G>A p.V166I 10:87952121-87952121 32
14 COSM23650 PTEN thyroid,NS,carcinoma,follicular carcinoma c.728T>C p.F243S 10:87957946-87957946 32
15 COSM23651 PTEN thyroid,NS,carcinoma,follicular carcinoma c.353A>G p.H118R 10:87933112-87933112 32
16 COSM5224 PTEN thyroid,NS,carcinoma,follicular carcinoma c.370T>A p.C124S 10:87933129-87933129 32
17 COSM5033 PTEN thyroid,NS,carcinoma,follicular carcinoma c.389G>A p.R130Q 10:87933148-87933148 32
18 COSM23653 PTEN thyroid,NS,carcinoma,follicular carcinoma c.476G>A p.R159K 10:87933235-87933235 32
19 COSM23654 PTEN thyroid,NS,carcinoma,follicular carcinoma c.701G>A p.R234Q 10:87957919-87957919 32
20 COSM760 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.1624G>A p.E542K 3:179218294-179218294 32
21 COSM29096 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.1558G>A p.D520N 3:179218228-179218228 32
22 COSM28544 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3026G>A p.G1009E 3:179234183-179234183 32
23 COSM33601 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3155C>T p.T1052I 3:179234312-179234312 32
24 COSM33599 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3052G>A p.D1018N 3:179234209-179234209 32
25 COSM33598 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3002T>A p.L1001H 3:179234159-179234159 32
26 COSM33600 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3046T>C p.F1016L 3:179234203-179234203 32
27 COSM12458 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.1634A>C p.E545A 3:179218304-179218304 32
28 COSM29095 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3001C>A p.L1001I 3:179234158-179234158 32
29 COSM29097 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.1649T>C p.F550S 3:179218319-179218319 32
30 COSM28547 PIK3CA thyroid,NS,carcinoma,follicular carcinoma c.3180C>T p.H1060H 3:179234337-179234337 32
31 COSM564 NRAS thyroid,NS,carcinoma,follicular carcinoma c.35G>A p.G12D 1:114716126-114716126 32
32 COSM707 MET thyroid,NS,carcinoma,follicular carcinoma c.3029C>T p.T1010I 7:116771936-116771936 32
33 COSM517 KRAS thyroid,NS,carcinoma,follicular carcinoma c.34G>A p.G12S 12:25245351-25245351 32
34 COSM532 KRAS thyroid,NS,carcinoma,follicular carcinoma c.38G>A p.G13D 12:25245347-25245347 32
35 COSM516 KRAS thyroid,NS,carcinoma,follicular carcinoma c.34G>T p.G12C 12:25245351-25245351 32
36 COSM522 KRAS thyroid,NS,carcinoma,follicular carcinoma c.35G>C p.G12A 12:25245350-25245350 32
37 COSM518 KRAS thyroid,NS,carcinoma,follicular carcinoma c.34G>C p.G12R 12:25245351-25245351 32
38 COSM551 KRAS thyroid,NS,carcinoma,follicular carcinoma c.182A>C p.Q61P 12:25227342-25227342 32
39 COSM96532 IDH1 thyroid,NS,carcinoma,follicular carcinoma c.390A>G p.I130M 2:208248393-208248393 32
40 COSM96533 IDH1 thyroid,NS,carcinoma,follicular carcinoma c.399T>A p.H133Q 2:208248384-208248384 32
41 COSM499 HRAS thyroid,NS,carcinoma,follicular carcinoma c.182A>G p.Q61R 11:533874-533874 32
42 COSM484 HRAS thyroid,NS,carcinoma,follicular carcinoma c.35G>A p.G12D 11:534288-534288 32
43 COSM498 HRAS thyroid,NS,carcinoma,follicular carcinoma c.182A>T p.Q61L 11:533874-533874 32
44 COSM500 HRAS thyroid,NS,carcinoma,follicular carcinoma c.182A>C p.Q61P 11:533874-533874 32
45 COSM28618 GNAS thyroid,NS,carcinoma,follicular carcinoma c.679C>A p.Q227K 20:58909540-58909540 32
46 COSM27900 GNAS thyroid,NS,carcinoma,follicular carcinoma c.681G>T p.Q227H 20:58909542-58909542 32
47 COSM27895 GNAS thyroid,NS,carcinoma,follicular carcinoma c.602G>A p.R201H 20:58909366-58909366 32
48 COSM6932694 EIF1AX thyroid,NS,carcinoma,follicular carcinoma c.338-2A>G p.? 23:20130609-20130609 32
49 COSM3372212 EIF1AX thyroid,NS,carcinoma,follicular carcinoma c.338-1G>C p.? 23:20130608-20130608 32
50 COSM1203589 DICER1 thyroid,NS,carcinoma,follicular carcinoma c.5437G>C p.E1813Q 14:95091293-95091293 32

Expression for Thyroid Cancer, Nonmedullary, 2

Search GEO for disease gene expression data for Thyroid Cancer, Nonmedullary, 2.

Pathways for Thyroid Cancer, Nonmedullary, 2

Pathways related to Thyroid Cancer, Nonmedullary, 2 according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 BRAF HRAS KDR NRAS PTEN
2
Show member pathways
12.68 BRAF HRAS KDR NRAS PTEN
3
Show member pathways
12.61 BRAF HRAS NRAS PAX8 PPARG PTEN
4 12.52 BRAF HRAS NRAS PAX8 PPARG PTEN
5
Show member pathways
12.36 BRAF HRAS KDR NRAS PTEN
6
Show member pathways
12.3 BRAF HRAS NRAS PTEN
7 12.2 BRAF HRAS KDR NRAS
8
Show member pathways
12.16 BRAF HRAS NRAS PPARG
9
Show member pathways
12.11 HRAS KDR NRAS PTEN
10
Show member pathways
12.04 BRAF HRAS NRAS PPARG
11 12.03 HRAS KDR NRAS PTEN
12
Show member pathways
11.99 BRAF HRAS KDR NRAS PTEN
13
Show member pathways
11.96 BRAF HRAS NRAS PTEN
14 11.84 BRAF HRAS PTEN
15 11.84 DIO2 HRAS NRAS THRB
16 11.78 BRAF HRAS NRAS PTEN
17 11.66 BRAF HRAS NRAS
18
Show member pathways
11.59 BRAF HRAS NRAS
19 11.54 BRAF HRAS NRAS
20 11.48 HRAS NRAS PTEN RET
21 11.4 HRAS NRAS RET
22
Show member pathways
11.27 BRAF HRAS KDR NRAS RET
23 11.22 BRAF HRAS NRAS
24 11.11 HRAS NRAS PTEN
25 11.08 BRAF HRAS KDR NRAS
26 10.85 BRAF HRAS MIR197 PAX8 TSHR
27 10.74 HRAS NRAS
28 10.35 TG TSHR

GO Terms for Thyroid Cancer, Nonmedullary, 2

Biological processes related to Thyroid Cancer, Nonmedullary, 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.91 BRAF KDR LGALS3 PAX8 PPARG RET
2 positive regulation of gene expression GO:0010628 9.85 BRAF HRAS NKX2-1 PTEN RET
3 MAPK cascade GO:0000165 9.8 BRAF HRAS NRAS RET
4 hormone-mediated signaling pathway GO:0009755 9.58 PPARG THRB TSHR
5 animal organ morphogenesis GO:0009887 9.56 BRAF HRAS NKX2-1 THRB
6 hormone biosynthetic process GO:0042446 9.51 DIO2 TG
7 cellular response to nerve growth factor stimulus GO:1990090 9.5 BRAF CALCA PTEN
8 thyroid hormone metabolic process GO:0042403 9.48 DIO2 TG
9 regulation of axon regeneration GO:0048679 9.43 BRAF PTEN
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.35 BRAF HRAS KDR PTEN RET
11 thyroid-stimulating hormone signaling pathway GO:0038194 9.16 PAX8 TSHR
12 thyroid gland development GO:0030878 9.02 BRAF NKX2-1 PAX8 TG THRB
13 signal transduction GO:0007165 10.13 BRAF HRAS NRAS PPARG RET SRGAP1

Molecular functions related to Thyroid Cancer, Nonmedullary, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.46 PPARG RET THRB TSHR
2 inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity GO:0051717 8.96 MINPP1 PTEN
3 thyroid-stimulating hormone receptor activity GO:0004996 8.62 PAX8 TSHR

Sources for Thyroid Cancer, Nonmedullary, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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