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	medullary thyroid carcinoma

Disease ID	632
Disease	medullary thyroid carcinoma
Definition	two types are found, familial and sporadic; if familial, the carcinoma is bilateral and may be associated with other benign or malignant endocrine organ tumors; if sporadic, it is unilateral; thyroidectomy and radiation therapy are treatments of choice.
Synonym	c cell carcinoma cancer medullary thyroid carcinoma medullary thyroid carcinoma, c-cell, malignant carcinomas medullary thyroid medullary carcinoma of the thyroid medullary carcinoma of the thyroid gland medullary carcinoma of thyroid medullary carcinoma of thyroid gland medullary carcinoma thyroid medullary thyroid cancer medullary thyroid cancer (mtc) medullary thyroid carcinoma (disorder) medullary thyroid gland carcinoma mtc - medullary thyroid carcinoma of medullary carcinoma thyroid parafollicular cell carcinoma struma, metastasizing amyloid thyroid cancer, medullary thyroid cancer, medullary carcinoma thyroid carcinoma, medullary thyroid gland medullary carcinoma thyroid gland neuroendocrine carcinoma thyroid medullary carcinoma thyroid, carcinoma, medullary thyroid, carcinoma, solid ultimobranchial thyroid tumor ultimobranchial thyroid tumour
Orphanet	ORPHANET:1332
DOID	DOID:3973
UMLS	C0238462
SNOMED-CT	SNOMEDCT_US_2016_09_01:255032005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:41) C0206693 \| medullary carcinoma \| 14 C0238462 \| medullary carcinoma of the thyroid \| 14 C0027662 \| multiple endocrine neoplasia \| 6 C0031511 \| pheochromocytoma \| 5 C0007115 \| thyroid cancer \| 3 C0025268 \| multiple endocrine neoplasia type 2 \| 3 C0027662 \| multiple endocrine neoplasia syndrome \| 2 C0040137 \| thyroid nodules \| 2 C0040137 \| thyroid nodule \| 2 C0007115 \| thyroid ca \| 2 C0153676 \| pulmonary metastases \| 2 C0018023 \| nodular goiter \| 1 C0001622 \| hypercortisolism \| 1 C0238463 \| papillary carcinoma of thyroid \| 1 C0002170 \| alopecia \| 1 C0238463 \| papillary thyroid carcinoma \| 1 C0034212 \| pyoderma \| 1 C0002171 \| alopecia areata \| 1 C0027662 \| multiple endocrine neoplasia syndromes \| 1 C0025269 \| men 2b \| 1 C0494165 \| liver metastases \| 1 C0031511 \| phaeochromocytoma \| 1 C1335749 \| carcinoma of the renal pelvis \| 1 C0007133 \| papillary carcinoma \| 1 C0020502 \| hyperparathyroidism \| 1 C0005716 \| blastomycosis \| 1 C0018021 \| goiter \| 1 C0018213 \| graves' disease \| 1 C0268397 \| cutaneous amyloidosis \| 1 C0153676 \| lung metastases \| 1 C0040147 \| thyroiditis \| 1 C0040128 \| thyroid disease \| 1 C0677607 \| hashimoto's thyroiditis \| 1 C0011991 \| diarrhea \| 1 C0153677 \| mediastinal metastasis \| 1 C0002726 \| amyloidosis \| 1 C0238463 \| papillary thyroid cancer \| 1 C0221002 \| primary hyperparathyroidism \| 1 C0025268 \| men 2a \| 1 C0549473 \| carcinoma of thyroid \| 1 C0025268 \| multiple endocrine neoplasia type 2a \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 3845 \| KRAS \| CLINVAR 5979 \| RET \| CLINVAR;CTD_human;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:64) 9048 \| ARTN \| 2.068 \| DISEASES 10904 \| BLCAP \| 1.304 \| DISEASES 796 \| CALCA \| 8.084 \| DISEASES 797 \| CALCB \| 3.921 \| DISEASES 799 \| CALCR \| 1.158 \| DISEASES 846 \| CASR \| 1.496 \| DISEASES 885 \| CCK \| 2.462 \| DISEASES 887 \| CCKBR \| 2.871 \| DISEASES 79577 \| CDC73 \| 2.13 \| DISEASES 1114 \| CHGB \| 2.061 \| DISEASES 1910 \| EDNRB \| 3.823 \| DISEASES 1999 \| ELF3 \| 1.344 \| DISEASES 23085 \| ERC1 \| 2.154 \| DISEASES 2569 \| GABRR1 \| 1.319 \| DISEASES 2618 \| GART \| 1.444 \| DISEASES 2520 \| GAST \| 3.363 \| DISEASES 2641 \| GCG \| 2.133 \| DISEASES 2668 \| GDNF \| 3.772 \| DISEASES 2674 \| GFRA1 \| 3.643 \| DISEASES 2675 \| GFRA2 \| 1.791 \| DISEASES 2885 \| GRB2 \| 1.403 \| DISEASES 220988 \| HNRNPA3 \| 2.321 \| DISEASES 3185 \| HNRNPF \| 1.166 \| DISEASES 27152 \| INTU \| 1.462 \| DISEASES 116372 \| LYPD1 \| 1.153 \| DISEASES 5609 \| MAP2K7 \| 1.296 \| DISEASES 4221 \| MEN1 \| 4.1 \| DISEASES 10367 \| MICU1 \| 3.35 \| DISEASES 2315 \| MLANA \| 1.016 \| DISEASES 56901 \| NDUFA4L2 \| 1.742 \| DISEASES 4763 \| NF1 \| 1.844 \| DISEASES 4803 \| NGF \| 1.156 \| DISEASES 7080 \| NKX2-1 \| 2.677 \| DISEASES 4893 \| NRAS \| 1.195 \| DISEASES 4914 \| NTRK1 \| 2.532 \| DISEASES 26254 \| OPTC \| 1.27 \| DISEASES 53829 \| P2RY13 \| 1.186 \| DISEASES 7849 \| PAX8 \| 1.568 \| DISEASES 5362 \| PLXNA2 \| 1.015 \| DISEASES 10908 \| PNPLA6 \| 1.862 \| DISEASES 5575 \| PRKAR1B \| 1.254 \| DISEASES 5727 \| PTCH1 \| 1.917 \| DISEASES 5728 \| PTEN \| 1.846 \| DISEASES 8045 \| RASSF7 \| 1.748 \| DISEASES 5979 \| RET \| 8.001 \| DISEASES 6390 \| SDHB \| 2.978 \| DISEASES 6391 \| SDHC \| 2.474 \| DISEASES 6392 \| SDHD \| 2.962 \| DISEASES 6464 \| SHC1 \| 2.899 \| DISEASES 9121 \| SLC16A5 \| 2.249 \| DISEASES 160728 \| SLC5A8 \| 1.608 \| DISEASES 6611 \| SMS \| 2.113 \| DISEASES 23583 \| SMUG1 \| 3.454 \| DISEASES 57522 \| SRGAP1 \| 2.373 \| DISEASES 6752 \| SSTR2 \| 3.526 \| DISEASES 6753 \| SSTR3 \| 1.393 \| DISEASES 93426 \| SYCE1 \| 1.832 \| DISEASES 6861 \| SYT5 \| 2.124 \| DISEASES 6863 \| TAC1 \| 1.677 \| DISEASES 53373 \| TPCN1 \| 2.221 \| DISEASES 8805 \| TRIM24 \| 1.433 \| DISEASES 7422 \| VEGFA \| 1.319 \| DISEASES 391104 \| VHLL \| 1.492 \| DISEASES 7432 \| VIP \| 1.318 \| DISEASES
Locus	(Waiting for update.)

Disease ID	632
Disease	medullary thyroid carcinoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:14) HP:0002716 \| Lymphadenopathy HP:0001618 \| Dysphonia HP:0000975 \| Hyperhidrosis HP:0100526 \| Neoplasm of the lung HP:0003528 \| Elevated calcitonin HP:0002666 \| Pheochromocytoma HP:0010622 \| Neoplasm of the skeletal system HP:0002015 \| Dysphagia HP:0002014 \| Diarrhea HP:0005994 \| Nodular goiter HP:0001824 \| Weight loss HP:0030146 \| Abnormal liver parenchyma morphology HP:0008200 \| Primary hyperparathyroidism HP:0002865 \| Medullary thyroid carcinoma
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0002664 \| Neoplasia \| 9 HP:0002666 \| Pheochromocytoma \| 5 HP:0100568 \| Endocrine neoplasia \| 5 HP:0002835 \| Aspiration \| 3 HP:0030731 \| Carcinoma \| 3 HP:0002895 \| Papillary thyroid carcinoma \| 2 HP:0002251 \| Hirschsprung megacolon \| 2 HP:0100570 \| Carcinoid tumor \| 2 HP:0003528 \| Elevated calcitonin \| 2 HP:0011034 \| Amyloid disease \| 1 HP:0000853 \| Goitre \| 1 HP:0000999 \| Pyoderma \| 1 HP:0001596 \| Hair loss \| 1 HP:0002014 \| Diarrhea \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0002229 \| Alopecia areata \| 1 HP:0000843 \| Hyperparathyroidism \| 1 HP:0001578 \| Hypercortisolism \| 1 HP:0000820 \| Thyroid abnormality \| 1 HP:0005994 \| Nodular goiter \| 1 HP:0002716 \| Lymph node hyperplasia \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0100646 \| Thyroiditis \| 1 HP:0008200 \| Primary hyperparathyroidism \| 1 HP:0012309 \| Cutaneous amyloidosis \| 1

Disease ID	632
Disease	medullary thyroid carcinoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:19) C2697417 \| pheochromocytoma C1446837 \| schistosoma mansoni C1262091 \| lymphocytic infiltration C1258104 \| progressive scleroderma C1090821 \| sepsis C0686619 \| lymph node metastases C0494165 \| liver metastasis C0494165 \| liver metastases C0494165 \| hepatic metastases C0398623 \| hypercoagulable state C0398623 \| hypercoagulability C0334595 \| ganglioneuromatosis C0267557 \| secretory diarrhea C0153690 \| bone metastases C0031511 \| phaeochromocytoma C0014130 \| endocrine disorders C0011991 \| diarrhoea C0010481 \| cushing's syndrome C0002726 \| amyloidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0031511 \| pheochromocytoma \| 5 C0011991 \| diarrhea \| 1 C0002726 \| amyloidosis \| 1

Manually Genotype(Total Manually Genotypes:4)
Gene	Mutation	DOI	Article Title
-	p.A883F, p.M918T, p.V804M+p.E805K, p.V804M+p.Y806C, p.V804M+p.S904C	doi:10.1097/GIM.0b013e318216cc6d	Multiple endocrine neoplasia type 2: An overview
-	p.C634R/G/F/S/W/Y	doi:10.1097/GIM.0b013e318216cc6d	Multiple endocrine neoplasia type 2: An overview
-	p.C609F/R/G/S/Y, p.C611R/G/F/S/W/Y, p.C618R/G/F/S/Y, p.C620R/G/F/S/W/Y, p.C630R/F/S/Y, p.D631Y, p.633/9 bp dup, p.634/12 bp dup, p.V804M p.V778I	doi:10.1097/GIM.0b013e318216cc6d	Multiple endocrine neoplasia type 2: An overview
-	p.R321G, p.531/9 bp dup, p.532 dup, p.C515S, p.G533C, p.R600Q, p.K603E, p.Y606C, p.635/insert ELRC; p.T636P, p.K666E, p.E768D, p.N777S, p.L790F, p.V804L/M, p.G819K, p.R833C, p.R844Q, p.R866W, p.S891A, p.R912P	doi:10.1097/GIM.0b013e318216cc6d	Multiple endocrine neoplasia type 2: An overview

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:59)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913240	NA	3845	KRAS	umls:C0238462	CLINVAR	NA	0.12	NA	KRAS	12	25227342	T	G,C,A
rs121913306	21186952	5979	RET	umls:C0238462	BeFree	Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation.	0.32	2011	NA	NA	NA	NA	NA
rs143795581	NA	5979	RET	umls:C0238462	CLINVAR	NA	0.32	NA	RET	10	43114596	A	C,G
rs143795581	21690267	5979	RET	umls:C0238462	BeFree	It was not possible to define whether K666E is a de novo or inherited RET variant in the patient, as the family history was negative for MTC, and the carrier status of family members could not be tested.	0.32	2011	RET	10	43114596	A	C,G
rs146646971	NA	5979	RET	umls:C0238462	CLINVAR	NA	0.32	NA	RET	10	43114598	G	C,T
rs146838520	16712668	5979	RET	umls:C0238462	BeFree	These data, along with the finding of a novel RET mutation (Arg886Trp), have important implications towards facilitating and improving the molecular diagnosis of hereditary MTC on a regional basis.	0.32	2006	RET	10	43120129	C	T
rs148935214	18322301	5979	RET	umls:C0238462	BeFree	Characterization of the RET protooncogene transmembrane domain mutation S649L associated with nonaggressive medullary thyroid carcinoma.	0.32	2008	RET	10	43114546	C	T
rs1799939	25887804	5979	RET	umls:C0238462	BeFree	The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies.	0.32	2015	RET	10	43114671	G	A
rs1799939	15240649	5979	RET	umls:C0238462	BeFree	RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population.	0.32	2004	RET	10	43114671	G	A
rs1799939	18331611	5979	RET	umls:C0238462	BeFree	Does the RET variant G691S influence the features of sporadic medullary thyroid carcinoma?	0.32	2008	RET	10	43114671	G	A
rs1799939	19411807	5979	RET	umls:C0238462	BeFree	The prevalence of the RET polymorphism G691S of exon 11 is higher in patients with medullary thyroid carcinoma (MTC) as compared to the general population.	0.32	2009	RET	10	43114671	G	A
rs1799939	22111543	5979	RET	umls:C0238462	BeFree	Clinical relevance of RET variants G691S, L769L, S836S and S904S to sporadic medullary thyroid cancer.	0.32	2012	RET	10	43114671	G	A
rs1799939	23180660	5979	RET	umls:C0238462	BeFree	The involvement of the RET variant G691S in medullary thyroid carcinoma enlightened by a meta-analysis study.	0.32	2013	RET	10	43114671	G	A
rs1799939	18299477	5979	RET	umls:C0238462	BeFree	RET gene analysis showed a p.V804M missense mutation in exon 14, a low- but variably penetrant defect found in both sporadic and MEN2A-associated MTC/CCH, and a p.G691S polymorphism in exon 11.	0.32	2008	RET	10	43114671	G	A
rs2066827	25565272	4914	NTRK1	umls:C0238462	BeFree	The rs2066827*GT+GG CDKN1B genotype was more frequent in s-MTC patients (62.22%) than in controls (40.21%), increasing the susceptibility to s-MTC (OR=2.47; 95% CI=1.048-5.833; P=0.038).	0.004614512	2015	CDKN1B;GPR19	12	12718165	T	A,C,G
rs2066827	21177330	1027	CDKN1B	umls:C0238462	BeFree	CDKN1B V109G polymorphism a new prognostic factor in sporadic medullary thyroid carcinoma.	0.000542884	2011	CDKN1B;GPR19	12	12718165	T	A,C,G
rs2066827	25565272	4489	MT1A	umls:C0238462	BeFree	The rs2066827*GT+GG CDKN1B genotype was more frequent in s-MTC patients (62.22%) than in controls (40.21%), increasing the susceptibility to s-MTC (OR=2.47; 95% CI=1.048-5.833; P=0.038).	0.001900093	2015	CDKN1B;GPR19	12	12718165	T	A,C,G
rs34682185	20039896	5979	RET	umls:C0238462	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.	0.32	2010	RET	10	43106382	G	A
rs377767391	12734540	5979	RET	umls:C0238462	BeFree	Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.	0.32	2003	RET	10	43113627	T	A,C,G
rs377767395	18248647	5979	RET	umls:C0238462	BeFree	All these findings demonstrate that the Y606C mutation is associated with RET constitutive activation and thus has to be considered of pathogenetic relevance in the development of MTC.	0.32	2008	RET	10	43113613	A	G
rs377767397	12734540	5979	RET	umls:C0238462	BeFree	Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.	0.32	2003	RET	10	43113628	G	A,C,T
rs377767398	12734540	5979	RET	umls:C0238462	BeFree	Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.	0.32	2003	NA	NA	NA	NA	NA
rs377767404	16053382	5979	RET	umls:C0238462	BeFree	Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma.	0.32	2005	RET	10	43114488	T	C
rs377767404	15523405	5979	RET	umls:C0238462	BeFree	Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation.	0.32	2004	RET	10	43114488	T	C
rs377767406	22274720	5979	RET	umls:C0238462	BeFree	Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyroid carcinoma.	0.32	2012	RET	10	43114491	G	A,T
rs377767414	20013610	5979	RET	umls:C0238462	BeFree	New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour.	0.32	2010	RET	10	43118397	G	A
rs377767426	21711375	5979	RET	umls:C0238462	BeFree	Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation?	0.32	2011	RET	10	43119694	C	G
rs377767427	20013610	5979	RET	umls:C0238462	BeFree	New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour.	0.32	2010	RET	10	43120114	C	G
rs377767428	15531548	5979	RET	umls:C0238462	BeFree	Identification of a novel point mutation in the RET gene (Ala883Thr), which is associated with medullary thyroid carcinoma phenotype only in homozygous condition.	0.32	2004	RET	10	43120120	G	A
rs377767429	21186952	5979	RET	umls:C0238462	BeFree	Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation.	0.32	2011	NA	NA	NA	NA	NA
rs74799832	24754736	2324	FLT4	umls:C0238462	BeFree	We assessed by immunohistochemistry the expression of EGFR, KIT, MET, PDGFRB, VEGF, VEGFR1, VEGFR2, and VEGFR3 in a series of 84 primary MTC tumors that had previously been molecularly characterized, including 14 RAS-positive, 18 RET(M918T)-positive, and 24 RET(C634)-positive tumors, as well as 15 wild-type tumors with no mutations in the RET or RAS genes.	0.001085767	2015	RET	10	43121968	T	C
rs74799832	24754736	5979	RET	umls:C0238462	BeFree	We assessed by immunohistochemistry the expression of EGFR, KIT, MET, PDGFRB, VEGF, VEGFR1, VEGFR2, and VEGFR3 in a series of 84 primary MTC tumors that had previously been molecularly characterized, including 14 RAS-positive, 18 RET(M918T)-positive, and 24 RET(C634)-positive tumors, as well as 15 wild-type tumors with no mutations in the RET or RAS genes.	0.32	2015	RET	10	43121968	T	C
rs74799832	15485908	6774	STAT3	umls:C0238462	BeFree	In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of STAT3 and elevated expression of CXCR4 was detected in metastatic thyroid C-cell carcinoma in the liver.	0.000542884	2004	RET	10	43121968	T	C
rs74799832	15485908	5979	RET	umls:C0238462	BeFree	In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of STAT3 and elevated expression of CXCR4 was detected in metastatic thyroid C-cell carcinoma in the liver.	0.32	2004	RET	10	43121968	T	C
rs74799832	15485908	7852	CXCR4	umls:C0238462	BeFree	In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of STAT3 and elevated expression of CXCR4 was detected in metastatic thyroid C-cell carcinoma in the liver.	0.000271442	2004	RET	10	43121968	T	C
rs74799832	21186952	5979	RET	umls:C0238462	BeFree	Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation.	0.32	2011	RET	10	43121968	T	C
rs74799832	19041016	5979	RET	umls:C0238462	BeFree	Until the end of the study, at a median age of 16.2 (range, 0.5-34.9 years), all 25 M918T RET carriers had developed medullary thyroid cancer.	0.32	2008	RET	10	43121968	T	C
rs74799832	22404432	5979	RET	umls:C0238462	BeFree	Low prevalence of the somatic M918T RET mutation in micro-medullary thyroid cancer.	0.32	2012	RET	10	43121968	T	C
rs74799832	17848262	5979	RET	umls:C0238462	BeFree	The ensuing molecular genetic analysis revealed a M918T mutation of the RET protooncogene, which is associated with early-onset medullary thyroid carcinoma (MTC).	0.32	2007	RET	10	43121968	T	C
rs75234356	9398735	5979	RET	umls:C0238462	BeFree	Here we describe a novel intracellular mutation in exon 15 of the ret gene that leads to the substitution of an alanine for a serine at codon 891 in a family with medullary thyroid carcinoma.	0.32	1997	RET	10	43120144	T	G
rs75234356	15947103	5979	RET	umls:C0238462	BeFree	The other two patients are members of a large multigenerational family affected with familial MTC due to a germline mutation of the RET gene (Ala891Ser).	0.32	2005	RET	10	43120144	T	G
rs75873440	23745650	5979	RET	umls:C0238462	BeFree	A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thyroid carcinoma emphasizes the need for an individualized assessment of affected relatives.	0.32	2013	RET	10	43112173	G	A,T
rs75873440	19138318	5979	RET	umls:C0238462	BeFree	We previously described a six-generation family with G533C RET mutation and medullary thyroid carcinoma, in the largest family reported do date.	0.32	2009	RET	10	43112173	G	A,T
rs75873440	21834681	5979	RET	umls:C0238462	BeFree	We have previously described a p.G533C substitution in the rearranged during transfection (RET) oncogene in a large family with medullary thyroid carcinoma.	0.32	2011	RET	10	43112173	G	A,T
rs75873440	24601688	5979	RET	umls:C0238462	BeFree	Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis.	0.32	2014	RET	10	43112173	G	A,T
rs75873440	18805915	5979	RET	umls:C0238462	BeFree	We describe the RET G533C mutation in exon 8 of the RET in two unrelated female index patients, with MEN2A phenotype, consisting of pheochromocytoma which was the presenting feature and medullary thyroid carcinoma.	0.32	2008	RET	10	43112173	G	A,T
rs75996173	12746565	5979	RET	umls:C0238462	BeFree	Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation.	0.32	2003	RET	10	43114501	G	A,C,T
rs77558292	16343103	5979	RET	umls:C0238462	BeFree	Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.	0.32	2005	RET	10	43113621	T	A,C,G
rs77558292	19475497	5979	RET	umls:C0238462	BeFree	In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.	0.32	2009	RET	10	43113621	T	A,C,G
rs77558292	22584703	5979	RET	umls:C0238462	BeFree	In this short review article, we comment on our previous report of a large multiple endocrine neoplasia type 2A kindred with the same Cys609Ser germline RET mutation in which, conversely, the syndrome was characterized by a slightly aggressive, highly penetrant form of medullary thyroid carcinoma that was associated with low penetrance of pheochromocytoma and primary hyperparathyroidism.	0.32	2012	RET	10	43113621	T	A,C,G
rs77709286	21325074	5979	RET	umls:C0238462	BeFree	Both in vitro and in vivo assays, using the human TT RET(C634W) MTC cell line, were done to assess the activity of sunitinib.	0.32	2011	RET	10	43114502	C	G
rs77724903	23723040	5979	RET	umls:C0238462	BeFree	We previously identified a four-generation family with medullary thyroid cancer (MTC) and a germline p.Y791F RET mutation whose cancer lacked a strong genotype-phenotype correlation.	0.32	2014	RET	10	43118460	A	T
rs77939446	19475497	5979	RET	umls:C0238462	BeFree	In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.	0.32	2009	RET	10	43113622	G	A,C,T
rs77939446	22584703	5979	RET	umls:C0238462	BeFree	In this short review article, we comment on our previous report of a large multiple endocrine neoplasia type 2A kindred with the same Cys609Ser germline RET mutation in which, conversely, the syndrome was characterized by a slightly aggressive, highly penetrant form of medullary thyroid carcinoma that was associated with low penetrance of pheochromocytoma and primary hyperparathyroidism.	0.32	2012	RET	10	43113622	G	A,C,T
rs77939446	16343103	5979	RET	umls:C0238462	BeFree	Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.	0.32	2005	RET	10	43113622	G	A,C,T
rs78014899	16736292	5979	RET	umls:C0238462	BeFree	RET mutation analysis confirmed an E768D mutation in exon 13 in 8 family members, 3 affected with medullary thyroid cancer alone while the other 5 were detected to be mutation carriers.	0.32	2006	RET	10	43118392	G	A,C,T
rs79658334	18299477	5979	RET	umls:C0238462	BeFree	RET gene analysis showed a p.V804M missense mutation in exon 14, a low- but variably penetrant defect found in both sporadic and MEN2A-associated MTC/CCH, and a p.G691S polymorphism in exon 11.	0.32	2008	RET	10	43119548	G	A,C,T
rs79658334	21134561	5979	RET	umls:C0238462	BeFree	We have correlated the presence of specific SNPs and the rare RET V804M mutation to MTC, C-cell hyperplasia (CCH), and PTC.	0.32	2010	RET	10	43119548	G	A,C,T
rs79658334	23341727	5979	RET	umls:C0238462	BeFree	A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.	0.32	2013	RET	10	43119548	G	A,C,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002865	Medullary thyroid carcinoma	MP:0003496	increased thyroid adenoma incidence	greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period
HP:0001824	Weight loss	MP:0005114	premature hair loss	release of fur at an earlier than expected time
HP:0100526	Neoplasm of the lung	MP:0004500	increased incidence of tumors by ionizing radiation induction	higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays
HP:0010622	Neoplasm of the skeletal system	MP:0010287	increased reproductive system tumor incidence	greater than the expected number of tumors originating in the reproductive system in a given population in a given time period

Mapped by homologous gene(Total Items:13)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000975	Hyperhidrosis	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0008200	Primary hyperparathyroidism	MP:0013572	abnormal parathyroid gland chief cell morphology	any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH)
HP:0010622	Neoplasm of the skeletal system	MP:0014179	abnormal blood-retinal barrier function	anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0001824	Weight loss	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002716	Lymphadenopathy	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0001618	Dysphonia	MP:0013659	abnormal erythroid lineage cell morphology	any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0003528	Elevated calcitonin	MP:0013006	abnormal enteric neural crest cell migration	any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t
HP:0100526	Neoplasm of the lung	MP:0014179	abnormal blood-retinal barrier function	anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0002015	Dysphagia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002014	Diarrhea	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002666	Pheochromocytoma	MP:0013774	decreased KLRG1-positive T-helper cell number	reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
HP:0005994	Nodular goiter	MP:0013006	abnormal enteric neural crest cell migration	any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t
HP:0002865	Medullary thyroid carcinoma	MP:0013006	abnormal enteric neural crest cell migration	any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t

Disease ID	632
Disease	medullary thyroid carcinoma
Case	(Waiting for update.)