NMTC1
MCID: THY103
MIFTS: 53

Thyroid Cancer, Monmedullary, 1 (NMTC1) malady

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

Aliases & Classifications for Thyroid Cancer, Monmedullary, 1

Aliases & Descriptions for Thyroid Cancer, Monmedullary, 1:

Name: Thyroid Cancer, Monmedullary, 1 54
Papillary Thyroid Carcinoma 12 50 14 69
Familial Nonmedullary Thyroid Cancer, Papillary 50 66
Nonmedullary Thyroid Carcinoma, Papillary 50 66
Non-Medullary Thyroid Carcinoma 66 69
Papillary Carcinoma of Thyroid 66 29
Familial Nonmedullary Thyroid Gland Carcinoma 69
Papillary Carcinoma of the Thyroid Gland 12
Familial Non-Medullary Thyroid Cancer 66
Thyroid Carcinoma, Nonmedullary, 1 13
Thyroid Carcinoma, Nonmedullary 1 69
Thyroid Cancer, Non-Medullary, 1 66
Nonmedullary Thyroid Carcinoma 66
Thyroid Carcinoma, Papillary 13
Thyroid Papillary Carcinoma 52
Thyroid Cancer, Papillary 42
Papillary Thyroid Cancer 52
Fnmtc 66
Nmtc1 66
Nmtc 66
Pact 66
Ptc 66
Tpc 66

Characteristics:

HPO:

32
thyroid cancer, monmedullary, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 188550
Disease Ontology 12 DOID:3969
NCIt 47 C4035
SNOMED-CT 64 255029007 4797003
MedGen 40 C0238463
UMLS 69 C0238463

Summaries for Thyroid Cancer, Monmedullary, 1

OMIM : 54 Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95%... (188550) more...

MalaCards based summary : Thyroid Cancer, Monmedullary, 1, also known as papillary thyroid carcinoma, is related to multicentric papillary thyroid carcinoma and familial papillary thyroid carcinoma, and has symptoms including papillary thyroid carcinoma and non-medullary thyroid carcinoma. An important gene associated with Thyroid Cancer, Monmedullary, 1 is NKX2-1 (NK2 Homeobox 1), and among its related pathways/superpathways are Pathways in cancer and Insulin secretion. The drugs Salmon Calcitonin and Sorafenib have been mentioned in the context of this disorder. Affiliated tissues include thyroid and lymph node, and related phenotypes are Decreased substrate adherent cell growth and homeostasis/metabolism

NIH Rare Diseases : 50 papillary thyroid carcinoma is a form of cancer that occurs due to abnormal and uncontrolled cell growth of certain cells (follicular cells) of the thyroid. many people with papillary thyroid carcinoma have no signs or symptoms of the condition. when present, symptoms may include a small lump at the base of the neck, hoarseness, difficulty swallowing, trouble breathing, and pain in the neck or throat. although people of all ages may be diagnosed with the condition, women between ages 30 and 50 are most commonly affected. the cause of papillary thyroid carcinoma is currently unknown. risks for developing thyroid cancer include a history of high-dose external radiation treatments to the neck and radiation exposure during nuclear plant disasters. the best treatment options depend on many factors, but may include surgery, radiation therapy (including radioactive iodine therapy), chemotherapy and thyroid hormone therapy. last updated: 10/12/2016

UniProtKB/Swiss-Prot : 66 Thyroid cancer, non-medullary, 1: 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.

Disease Ontology : 12 A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer.

Related Diseases for Thyroid Cancer, Monmedullary, 1

Diseases related to Thyroid Cancer, Monmedullary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 165)
id Related Disease Score Top Affiliating Genes
1 multicentric papillary thyroid carcinoma 12.1
2 familial papillary thyroid carcinoma 12.1
3 nonmedullary thyroid carcinoma, with or without cell oxyphilia 12.0
4 thyroiditis 11.2
5 thyroid carcinoma, papillary, with papillary renal neoplasia 11.1
6 thyroid cancer, nonmedullary, 4 11.0
7 thyroid cancer, nonmedullary, 2 11.0
8 familial papillary or follicular thyroid carcinoma 10.8
9 adenoma 10.4
10 cervicitis 10.4
11 fasting plasma glucose level qtl 5 10.3 NTRK1 RET
12 struma ovarii 10.3
13 trigonocephaly, nonsyndromic 10.3 BRAF RET
14 acute hemorrhagic encephalitis 10.3 RET TG TSHR
15 mesocardia 10.2 PAX8 TG TSHR
16 background diabetic retinopathy 10.2 TG TPO TSHR
17 krabbe disease 10.2 TG TPO TSHR
18 goiter 10.2
19 conjunctival deposit 10.2 TG TPO TSHR
20 endemic goiter 10.2 TG TPO TSHR
21 mixed eosinophil-basophil adenoma 10.2 TG TPO TSHR
22 hypothyroidism, congenital, nongoitrous, 1 10.2 TG TPO TSHR
23 broad ligament malignant neoplasm 10.2 TG TPO TSHR
24 parathyroid adenoma 10.2
25 gastrinoma 10.2 NKX2-1 RET TG TSHR
26 denys-drash syndrome 10.2 TG TPO TSHR
27 janus kinase-3 deficiency 10.2 TG TPO TSHR
28 fibrous meningioma 10.2 TG TPO
29 premature closure of the arterial duct 10.2 TG TPO
30 neutropenia, severe congenital, 5, autosomal recessive 10.2 NKX2-1 NTRK1 RET TG
31 dihydrolipoamide dehydrogenase deficiency 10.2 PAX8 TG TPO
32 monostotic fibrous dysplasia 10.2 BRAF LGALS3 PTEN
33 acute disseminated encephalomyelitis 10.2 BRAF MET PTEN
34 endotheliitis 10.2
35 autoimmune hemolytic anemia 10.2 RET TG TPO TSHR
36 neuhauser daly magnelli syndrome 10.2 PAX8 TG TPO TSHR
37 childhood teratocarcinoma of the testis 10.2 PTEN RET TG
38 sengers syndrome 10.1 LGALS3 MET PTEN
39 tmem70 defect 10.1 BRAF NKX2-1 PAX8 RET TG
40 hashimoto thyroiditis 10.1
41 parachordoma 10.1 BRAF NKX2-1 RET TG TSHR
42 neuronopathy, distal hereditary motor, type viia 10.1 LGALS3 NKX2-1 PAX8 TG TSHR
43 papillary carcinoma 10.1
44 squamous cell carcinoma 10.1
45 thyroid cancer 10.1
46 multiple endocrine neoplasia 10.1
47 chromophil adenoma of the kidney 10.1 NKX2-1 TG
48 exanthema subitum 10.1 NKX2-1 PAX8 TG TPO TSHR
49 commensal bacterial infectious disease 10.1 NKX2-1 PAX8 TG TPO TSHR
50 aflatoxins-related hepatocellular carcinoma 10.1 NKX2-1 PAX8 TG TPO TSHR

Graphical network of the top 20 diseases related to Thyroid Cancer, Monmedullary, 1:



Diseases related to Thyroid Cancer, Monmedullary, 1

Symptoms & Phenotypes for Thyroid Cancer, Monmedullary, 1

Symptoms by clinical synopsis from OMIM:

188550

Clinical features from OMIM:

188550

Human phenotypes related to Thyroid Cancer, Monmedullary, 1:

32
id Description HPO Frequency HPO Source Accession
1 papillary thyroid carcinoma 32 HP:0002895
2 non-medullary thyroid carcinoma 32 HP:0040198

GenomeRNAi Phenotypes related to Thyroid Cancer, Monmedullary, 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.1 MET
2 Decreased substrate adherent cell growth GR00193-A-3 9.1 BRAF MET
3 Decreased substrate adherent cell growth GR00193-A-4 9.1 MET NTRK1 BRAF

MGI Mouse Phenotypes related to Thyroid Cancer, Monmedullary, 1:

44 (show all 23)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 BRAF ERC1 LGALS3 MET NCOA4 NKX2-1
2 mortality/aging MP:0010768 10.4 BRAF ERC1 KRT19 LGALS3 MET NKX2-1
3 growth/size/body region MP:0005378 10.38 BRAF KRT19 MET NKX2-1 NTRK1 PTEN
4 behavior/neurological MP:0005386 10.35 BRAF LGALS3 MET NKX2-1 NTRK1 PAX8
5 cardiovascular system MP:0005385 10.35 BRAF KRT19 LGALS3 MET NKX2-1 PAX8
6 endocrine/exocrine gland MP:0005379 10.35 BRAF KRT19 MET NKX2-1 PAX8 PPARG
7 cellular MP:0005384 10.34 NKX2-1 PAX8 PPARG PTCH1 PTEN RET
8 nervous system MP:0003631 10.28 PTCH1 PTEN RET TG TPM3 TSHR
9 immune system MP:0005387 10.26 BRAF LGALS3 MET NTRK1 PPARG PTCH1
10 hematopoietic system MP:0005397 10.25 LGALS3 NTRK1 PPARG PTCH1 PTEN RET
11 digestive/alimentary MP:0005381 10.19 BRAF KRT19 LGALS3 MET NKX2-1 PTCH1
12 embryo MP:0005380 10.19 BRAF KRT19 MET PAX8 PPARG PTCH1
13 neoplasm MP:0002006 10.16 KRT19 LGALS3 MET NKX2-1 PPARG PTCH1
14 limbs/digits/tail MP:0005371 10.11 MET NTRK1 PAX8 PTCH1 PTEN RET
15 normal MP:0002873 10.11 PTEN RET BRAF ERC1 KRT19 MET
16 no phenotypic analysis MP:0003012 10.1 PPARG PTCH1 RET TPM3 NTRK1 PAX8
17 muscle MP:0005369 10.08 BRAF MET NTRK1 RET TPM3 PPARG
18 hearing/vestibular/ear MP:0005377 10.03 BRAF NTRK1 PAX8 PPARG TPO TSHR
19 reproductive system MP:0005389 9.96 BRAF KRT19 LGALS3 NKX2-1 PAX8 PPARG
20 renal/urinary system MP:0005367 9.92 BRAF LGALS3 MET PAX8 PPARG PTCH1
21 respiratory system MP:0005388 9.7 BRAF LGALS3 MET NKX2-1 PTCH1 PTEN
22 skeleton MP:0005390 9.65 PAX8 PPARG PTCH1 PTEN TPO TSHR
23 vision/eye MP:0005391 9.28 BRAF MET NTRK1 PAX8 PPARG PTCH1

Drugs & Therapeutics for Thyroid Cancer, Monmedullary, 1

Drugs for Thyroid Cancer, Monmedullary, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 166)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salmon Calcitonin Approved, Investigational Phase 3,Phase 2 47931-85-1 16129616
2
Sorafenib Approved, Investigational Phase 3,Phase 2 284461-73-0 216239 406563
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
4
Niacin Approved, Investigational, Nutraceutical Phase 3,Phase 2 59-67-6 938
5
Nicotinamide Approved, Nutraceutical Phase 3,Phase 2 98-92-0 936
6 Anti-Infective Agents Phase 2, Phase 3, Phase 1
7 Hormones Phase 3,Phase 2,Phase 1
8 Vitamin B Complex Phase 3,Phase 2
9 Anti-Infective Agents, Local Phase 2, Phase 3, Phase 1
10 cadexomer iodine Phase 2, Phase 3, Phase 1
11
Iodine Phase 2, Phase 3, Phase 1 7553-56-2 807
12 Micronutrients Phase 2, Phase 3, Phase 1
13 Trace Elements Phase 2, Phase 3, Phase 1
14 Bone Density Conservation Agents Phase 3,Phase 2
15 calcitonin Phase 3,Phase 2
16 Calcitonin Gene-Related Peptide Phase 3,Phase 2
17 Hormone Antagonists Phase 3,Phase 2
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
19 Nicotinic Acids Phase 3,Phase 2
20 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
21 Vitamins Phase 3,Phase 2
22 Folate Nutraceutical Phase 3,Phase 2
23 Vitamin B9 Nutraceutical Phase 3,Phase 2
24 Vitamin B3 Nutraceutical Phase 3,Phase 2
25
Rosiglitazone Approved, Investigational Phase 2,Phase 1 122320-73-4 77999
26
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
27
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 446556 60843
28
Everolimus Approved Phase 2 159351-69-6 6442177
29
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
30
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
31
Indinavir Approved Phase 2 150378-17-9 5362440
32
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
33
Azacitidine Approved, Investigational Phase 2,Phase 1 320-67-2 9444
34
Decitabine Approved, Investigational Phase 2 2353-33-5 451668
35
Bortezomib Approved, Investigational Phase 2,Phase 1 179324-69-7 387447 93860
36
Calcium carbonate Approved Phase 2 471-34-1
37
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
38
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
39
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
40
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
41
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
42
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
43
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
44
Tamoxifen Approved Phase 2 10540-29-1 2733526
45
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
46
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
47
Dabrafenib Approved Phase 2,Phase 1 44462760 44516822
48
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
49
Trametinib Approved Phase 2 871700-17-3 11707110
50
Salicylic acid Approved, Vet_approved Phase 2 69-72-7 338

Interventional clinical trials:

(show top 50) (show all 119)
id Name Status NCT ID Phase
1 Decision Making on Radioactive Iodine Treatment for Papillary Thyroid Cancer Completed NCT01083550 Phase 2, Phase 3
2 Lateral Neck Sentinel Lymph Node Biopsy(LSLNB)in PTC Completed NCT01137097 Phase 2, Phase 3
3 Prophylactic Central Lymph Node Dissection in Papillary Thyroid Microcarcinoma Completed NCT00795782 Phase 3
4 A New Study to Follow-up Thyroid Cancer Patients Who Participated in a Previous Study, Which Compared the Success of Destruction of the Thyroid Remnant Using Standard Treatment or Thyrogen. Completed NCT00295763 Phase 3
5 Extent of Central Lymph Node Dissection in Papillary Thyroid Microcarcinoma Recruiting NCT01149161 Phase 2, Phase 3
6 IoN- Is Ablative Radio-iodine Necessary for Low Risk Differentiated Thyroid Cancer Patients Recruiting NCT01398085 Phase 2, Phase 3
7 Iodine I 131 With or Without Thyroid-Stimulating Hormone in Treating Patients Who Have Undergone Surgery for Thyroid Cancer Active, not recruiting NCT00415233 Phase 3
8 Nexavar® Versus Placebo in Locally Advanced/Metastatic RAI-Refractory Differentiated Thyroid Cancer Active, not recruiting NCT00984282 Phase 3
9 Rosiglitazone in Treating Patients With Locoregionally Extensive or Metastatic Thyroid Cancer Unknown status NCT00098852 Phase 2
10 Pemetrexed + Paclitaxel in Patients With Recurrent/Advanced Thyroid Cancer Unknown status NCT00786552 Phase 2
11 Everolimus in Treating Patients With Progressive or Recurrent, Unresectable, or Metastatic Thyroid Cancer Unknown status NCT01118065 Phase 2
12 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2
13 Selumetinib in Treating Patients With Papillary Thyroid Cancer That Did Not Respond to Radioactive Iodine Completed NCT00559949 Phase 2
14 Decitabine in Treating Patients With Metastatic Papillary Thyroid Cancer or Follicular Thyroid Cancer Unresponsive to Iodine I 131 Completed NCT00085293 Phase 2
15 A Study of Vemurafenib (RO5185426) in Participants With Metastatic or Unresectable Papillary Thyroid Cancer Positive for the BRAF V600 Mutation Completed NCT01286753 Phase 2
16 Sorafenib Tosylate in Treating Younger Patients With Relapsed or Refractory Rhabdomyosarcoma, Wilms Tumor, Liver Cancer, or Thyroid Cancer Completed NCT01502410 Phase 2
17 Bortezomib in Treating Patients With Metastatic Thyroid Cancer That Did Not Respond to Radioactive Iodine Therapy Completed NCT00104871 Phase 2
18 Prevention of Hypocalcemia in Patients Undergoing Total Thyroidectomy Plus Central Neck Dissection Completed NCT00630214 Phase 2
19 Sutent Adjunctive Treatment of Differentiated Thyroid Cancer Completed NCT00668811 Phase 2
20 Romidepsin in Treating Patients With Recurrent and/or Metastatic Thyroid Cancer That Has Not Responded to Radioactive Iodine Completed NCT00098813 Phase 2
21 A Broad Multi-histology Phase II Study of the Multi-Kinase Inhibitor R935788 (Fostamatinib Disodium) in Advanced Colorectal, Non-small Cell Lung, Head and Neck Hepatocellular and Renal Cell Carcinomas, and Pheochromocytoma and Thyroid Tumors (Multi-H... Completed NCT00923481 Phase 2
22 Tanespimycin in Treating Patients With Inoperable Locoregionally Advanced or Metastatic Thyroid Cancer Completed NCT00118248 Phase 2
23 Aflibercept in Treating Patients With Recurrent and/or Metastatic Thyroid Cancer That Did Not Respond to Radioactive Iodine Therapy Completed NCT00729157 Phase 2
24 Thalidomide in Treating Patients With Thyroid Cancer Completed NCT00026533 Phase 2
25 Sunitinib Malate in Treating Patients With Iodine-Refractory Recurrent or Metastatic Thyroid Cancer Completed NCT00519896 Phase 2
26 Suberoylanilide Hydroxamic Acid in Treating Patients With Metastatic and/or Locally Advanced or Locally Recurrent Thyroid Cancer Completed NCT00134043 Phase 2
27 Celecoxib in Treating Patients With Progressive Metastatic Differentiated Thyroid Cancer Completed NCT00061906 Phase 2
28 Effect of Lithium Carbonate on Low-Dose Radioiodine Therapy in Early Thyroid Cancer Completed NCT00251316 Phase 2
29 Gefitinib in Treating Patients With Locally Advanced or Metastatic Thyroid Cancer That Did Not Respond to Iodine Therapy Completed NCT00095836 Phase 2
30 Everolimus in Treating Patients With Locally Advanced or Metastatic Thyroid Cancer Completed NCT01164176 Phase 2
31 A Phase 2, Open-label Study of AMG 706 to Treat Subjects With Locally Advanced or Metastatic Thyroid Cancer Completed NCT00121628 Phase 2
32 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2
33 Vaccine Therapy Plus Biological Therapy in Treating Adults With Metastatic Solid Tumors Completed NCT00019331 Phase 2
34 Study Of AG-013736 In Patients With 131I-Refractory Thyroid Cancer Completed NCT00389441 Phase 2
35 Total Thyroidectomy With and Without Prophylactic Central Neck Lymph Node Dissection in People With Low-risk Papillary Thyroid Cancer Recruiting NCT02408887 Phase 2
36 Thyroid Gland Removal With or Without Central Lymph Node Dissection in Treating Patients With Node Negative Thyroid Cancer Recruiting NCT02138214 Phase 2
37 Comparison Between the Axillary Bilateral-breast Approach (ABBA) and Bilateral Axillo-breast Approach (BABA) for Robotic Thyroidectomy Recruiting NCT02768753 Phase 1, Phase 2
38 Basket Study of Entrectinib (RXDX-101) for the Treatment of Patients With Solid Tumors Harboring NTRK 1/2/3 (Trk A/B/C), ROS1, or ALK Gene Rearrangements (Fusions) Recruiting NCT02568267 Phase 2
39 Trametinib in Increasing Tumoral Iodine Incorporation in Patients With Recurrent or Metastatic Thyroid Cancer Recruiting NCT02152995 Phase 2
40 Iodine I-131 With or Without Selumetinib in Treating Patients With Recurrent or Metastatic Thyroid Cancer Recruiting NCT02393690 Phase 2
41 Vemurafenib Neoadjuvant Trial in Locally Advanced Thyroid Cancer Recruiting NCT01709292 Phase 2
42 Safety and Efficacy of Sorafenib in Patients With Advanced Thyroid Cancer: a Phase II Clinical Study Recruiting NCT02084732 Phase 2
43 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
44 A Study of Zelboraf (Vemurafenib) in Patients With BRAF V600 Mutation-Positive Cancers Active, not recruiting NCT01524978 Phase 2
45 Dabrafenib With or Without Trametinib in Treating Patients With Recurrent Thyroid Cancer Active, not recruiting NCT01723202 Phase 2
46 Efficacy and Safety of Vandetanib (ZD6474) in Patients With Metastatic Papillary or Follicular Thyroid Cancer Active, not recruiting NCT00537095 Phase 2
47 REVLIMID® (Lenalidomide) for Therapy of Radioiodine-Unresponsive Papillary and Follicular Thyroid Carcinomas Active, not recruiting NCT00287287 Phase 2
48 Cediranib Maleate With or Without Lenalidomide in Treating Patients With Thyroid Cancer Active, not recruiting NCT01208051 Phase 1, Phase 2
49 Sunitinib in Treating Patients With Thyroid Cancer That Did Not Respond to Iodine I 131 and Cannot Be Removed by Surgery Active, not recruiting NCT00381641 Phase 2
50 A Multicenter Phase II Pilot Open Label Active, not recruiting NCT01830504 Phase 2

Search NIH Clinical Center for Thyroid Cancer, Monmedullary, 1

Cochrane evidence based reviews: thyroid cancer, papillary

Genetic Tests for Thyroid Cancer, Monmedullary, 1

Genetic tests related to Thyroid Cancer, Monmedullary, 1:

id Genetic test Affiliating Genes
1 Papillary Thyroid Carcinoma 29

Anatomical Context for Thyroid Cancer, Monmedullary, 1

MalaCards organs/tissues related to Thyroid Cancer, Monmedullary, 1:

39
Thyroid, Lymph Node

Publications for Thyroid Cancer, Monmedullary, 1

Variations for Thyroid Cancer, Monmedullary, 1

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Cancer, Monmedullary, 1:

66
id Symbol AA change Variation ID SNP ID
1 NKX2-1 p.Ala339Val VAR_075769 rs537209983

ClinVar genetic disease variations for Thyroid Cancer, Monmedullary, 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic/Likely pathogenic rs113488022 GRCh37 Chromosome 7, 140453136: 140453136

Cosmic variations for Thyroid Cancer, Monmedullary, 1:

9 (show top 50) (show all 124)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM17721 VHL thyroid,NS,carcinoma,papillary carcinoma c.241C>T p.P81S 45
2 COSM26416 TSHR thyroid,NS,carcinoma,papillary carcinoma c.1867G>T p.A623S 45
3 COSM26449 TSHR thyroid,NS,carcinoma,papillary carcinoma c.1358T>C p.M453T 45
4 COSM44225 TP53 thyroid,NS,carcinoma,papillary carcinoma c.859G>A p.E287K 45
5 COSM10834 TP53 thyroid,NS,carcinoma,papillary carcinoma c.711G>A p.M237I 45
6 COSM10704 TP53 thyroid,NS,carcinoma,papillary carcinoma c.844C>T p.R282W 45
7 COSM43980 TP53 thyroid,NS,carcinoma,papillary carcinoma c.691A>G p.T231A 45
8 COSM10739 TP53 thyroid,NS,carcinoma,papillary carcinoma c.481G>A p.A161T 45
9 COSM10867 TP53 thyroid,NS,carcinoma,papillary carcinoma c.797G>A p.G266E 45
10 COSM10771 TP53 thyroid,NS,carcinoma,papillary carcinoma c.749C>T p.P250L 45
11 COSM10863 TP53 thyroid,NS,carcinoma,papillary carcinoma c.833C>T p.P278L 45
12 COSM14193 SMAD4 thyroid,NS,carcinoma,papillary carcinoma c.1487G>A p.R496H 45
13 COSM14185 SMAD4 thyroid,NS,carcinoma,papillary carcinoma c.676G>A p.A226T 45
14 COSM14196 SMAD4 thyroid,NS,carcinoma,papillary carcinoma c.1648C>T p.P550S 45
15 COSM14189 SMAD4 thyroid,NS,carcinoma,papillary carcinoma c.971G>A p.C324Y 45
16 COSM14186 SMAD4 thyroid,NS,carcinoma,papillary carcinoma c.788A>G p.N263S 45
17 COSM14195 SMAD4 thyroid,NS,carcinoma,papillary carcinoma c.1482C>T p.D494D 45
18 COSM14163 SMAD4 thyroid,NS,carcinoma,papillary carcinoma c.931C>T p.Q311* 45
19 COSM13015 PTPN11 thyroid,NS,carcinoma,papillary carcinoma c.215C>T p.A72V 45
20 COSM5092 PTEN thyroid,NS,carcinoma,papillary carcinoma c.385G>A p.G129R 45
21 COSM5034 PTEN thyroid,NS,carcinoma,papillary carcinoma c.425G>A p.R142Q 45
22 COSM17443 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.3019G>C p.G1007R 45
23 COSM760 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.1624G>A p.E542K 45
24 COSM775 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.3140A>G p.H1047R 45
25 COSM29110 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.3115T>C p.F1039L 45
26 COSM27133 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.1633G>C p.E545Q 45
27 COSM17446 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.3149G>A p.G1050D 45
28 COSM763 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.1633G>A p.E545K 45
29 COSM12597 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.3145G>C p.G1049R 45
30 COSM778 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.2102A>C p.H701P 45
31 COSM1666844 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.977C>T p.S326F 45
32 COSM29106 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.1658G>A p.S553N 45
33 COSM759 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.1616C>G p.P539R 45
34 COSM29108 PIK3CA thyroid,NS,carcinoma,papillary carcinoma c.3184A>G p.I1062V 45
35 COSM584 NRAS thyroid,NS,carcinoma,papillary carcinoma c.182A>G p.Q61R 45
36 COSM583 NRAS thyroid,NS,carcinoma,papillary carcinoma c.182A>T p.Q61L 45
37 COSM580 NRAS thyroid,NS,carcinoma,papillary carcinoma c.181C>A p.Q61K 45
38 COSM585 NRAS thyroid,NS,carcinoma,papillary carcinoma c.183A>T p.Q61H 45
39 COSM570 NRAS thyroid,NS,carcinoma,papillary carcinoma c.37G>T p.G13C 45
40 COSM573 NRAS thyroid,NS,carcinoma,papillary carcinoma c.38G>A p.G13D 45
41 COSM586 NRAS thyroid,NS,carcinoma,papillary carcinoma c.183A>C p.Q61H 45
42 COSM562 NRAS thyroid,NS,carcinoma,papillary carcinoma c.34G>T p.G12C 45
43 COSM564 NRAS thyroid,NS,carcinoma,papillary carcinoma c.35G>A p.G12D 45
44 COSM707 MET thyroid,NS,carcinoma,papillary carcinoma c.3029C>T p.T1010I 45
45 COSM26146 KRAS thyroid,NS,carcinoma,papillary carcinoma c.91G>C p.E31Q 45
46 COSM520 KRAS thyroid,NS,carcinoma,papillary carcinoma c.35G>T p.G12V 45
47 COSM529 KRAS thyroid,NS,carcinoma,papillary carcinoma c.37G>C p.G13R 45
48 COSM521 KRAS thyroid,NS,carcinoma,papillary carcinoma c.35G>A p.G12D 45
49 COSM548 KRAS thyroid,NS,carcinoma,papillary carcinoma c.179G>C p.G60A 45
50 COSM527 KRAS thyroid,NS,carcinoma,papillary carcinoma c.37G>T p.G13C 45

Copy number variations for Thyroid Cancer, Monmedullary, 1 from CNVD:

7 (show all 16)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13343 1 1 124300000 Chromosomal rearrang ement Papillary thyroid carcinoma
2 13804 1 1 60900000 Chromosomal rearrang ement Papillary thyroid carcinoma
3 19995 1 152394403 152431233 Translate TPM3 Papillary thyroid carcinoma
4 42899 10 42100000 53300000 Chromosomal rearrang ement Papillary thyroid carcinoma
5 44673 10 61218526 61336824 Translate D10S170 Papillary thyroid carcinoma
6 91970 15 37900000 47600000 Copy number FGF7 Papillary thyroid carcinoma
7 95418 15 76100000 86900000 Copy number AKAP13 Papillary thyroid carcinoma
8 96732 15 92330402 92376057 Translate GOLGA5 Papillary thyroid carcinoma
9 106730 17 1 11200000 Copy number TRE2 Papillary thyroid carcinoma
10 140387 2 197100000 209100000 Copy number TRAK2 Papillary thyroid carcinoma
11 148729 2 83700000 91000000 Amplification TB10 Papillary thyroid carcinoma
12 166063 3 1 14700000 Chromosomal rearrang ement Papillary thyroid carcinoma
13 166395 3 101910849 101950501 Translate TFG Papillary thyroid carcinoma
14 194280 5 139000000 143100000 Copy number EIF4EBP3 Papillary thyroid carcinoma
15 219438 7 126900000 158821424 Chromosomal rearrangement Papillary thyroid carcinoma
16 232143 8 112100000 146364022 Amplification Papillary thyroid cancer

Expression for Thyroid Cancer, Monmedullary, 1

Search GEO for disease gene expression data for Thyroid Cancer, Monmedullary, 1.

Pathways for Thyroid Cancer, Monmedullary, 1

GO Terms for Thyroid Cancer, Monmedullary, 1

Biological processes related to Thyroid Cancer, Monmedullary, 1 according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.88 NTRK1 PPARG PTCH1 PTEN VEGFC
2 positive regulation of transcription, DNA-templated GO:0045893 9.88 NCOA4 NKX2-1 PAX8 PPARG PTCH1 RET
3 animal organ morphogenesis GO:0009887 9.56 BRAF NKX2-1 PTCH1 VEGFC
4 positive chemotaxis GO:0050918 9.54 LGALS3 MET VEGFC
5 cellular response to nerve growth factor stimulus GO:1990090 9.5 BRAF NTRK1 PTEN
6 hormone biosynthetic process GO:0042446 9.49 TG TPO
7 regulation of axon regeneration GO:0048679 9.43 BRAF PTEN
8 response to drug GO:0042493 9.43 NTRK1 PPARG PTCH1 PTEN RET VEGFC
9 thyroid-stimulating hormone signaling pathway GO:0038194 9.16 PAX8 TSHR
10 thyroid gland development GO:0030878 8.92 BRAF NKX2-1 PAX8 TG
11 signal transduction GO:0007165 10.11 BRAF MET PPARG PTCH1 RET TFG

Molecular functions related to Thyroid Cancer, Monmedullary, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.13 MET NTRK1 RET
2 thyroid-stimulating hormone receptor activity GO:0004996 8.62 PAX8 TSHR
3 protein binding GO:0005515 10.09 BRAF CCDC6 ERC1 KRT19 LGALS3 MET

Sources for Thyroid Cancer, Monmedullary, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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42 MeSH
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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