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MEA
MCID: MLT074
MIFTS: 59

Multiple Endocrine Neoplasia (MEA)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Multiple Endocrine Neoplasia

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MalaCards integrated aliases for Multiple Endocrine Neoplasia:

Name: Multiple Endocrine Neoplasia 12 43 58 29 54 6 15 71
Multiple Endocrine Adenomatosis 12 43
Men 43 58
Multiple Endocrine Neoplasia Syndrome 36
Multiple Endocrine Neoplasia Type 1 71
Adenomatosis, Familial Endocrine 43
Familial Endocrine Adenomatosis 43
Endocrine Neoplasia, Multiple 43
Multiple Endocrine Neoplasms 43
Mea 43

Characteristics:

Orphanet epidemiological data:

58
multiple endocrine neoplasia
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Cancer diseases
Anatomical: Endocrine diseases Gastrointestinal diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:3125
KEGG 36 H00247
ICD10 via Orphanet 33 D44.8
UMLS via Orphanet 72 C0027662
Orphanet 58 ORPHA276161
UMLS 71 C0025267 C0027662
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Summaries for Multiple Endocrine Neoplasia

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MedlinePlus Genetics : 43 Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms.Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue.The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.

MalaCards based summary : Multiple Endocrine Neoplasia, also known as multiple endocrine adenomatosis, is related to multiple endocrine neoplasia, type iv and multiple endocrine neoplasia, type iib, and has symptoms including diarrhea An important gene associated with Multiple Endocrine Neoplasia is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Glioblastoma Multiforme and Citrate cycle (TCA cycle). The drugs Dexlansoprazole and Lansoprazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and pancreas, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A syndrome that is characterized by tumors in at least two endocrine glands.

KEGG : 36 Multiple endocrine neoplasias (MEN) are autosomal dominant syndrome which is characterized by the occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely MEN1, MEN2A, MEN2B and MEN4. MEN1, which is also referred as Wermer's syndrome, is characterized by parathyroid adenoma, gastrinoma, and pituitary adenoma. Gastrinomas are the most common type, leading to the Zollinger-Ellison Syndrome (see H01522). MEN2 are characterized by medullary thyroid cancer (MTC) and includes three subtypes: MEN2A (Sipple's syndrome), MEN2B (MEN3) and familial MTC. MEN2A develop MTC in association with phaeochromocytoma and parathyroid tumors. MEN2B develop MTC in association with marfanoid habitus, mucosal neuromas, medullated corneal fibers and intestinal autonomic ganglion dysfunction, leading to megacolon. MEN4, also referred to as MENX, appears to have signs and symptoms similar to those of type 1. However MEN4 patients have mutations in other genes. The mutations in their responsible genes are found in Each MEN syndrome.

Wikipedia : 74 The term multiple endocrine neoplasia encompasses several distinct syndromes featuring tumors of... more...

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Related Diseases for Multiple Endocrine Neoplasia

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Diseases in the Multiple Endocrine Neoplasia family:

Multiple Endocrine Neoplasia, Type I Multiple Endocrine Neoplasia, Type Iib
Multiple Endocrine Neoplasia, Type Iia Multiple Endocrine Neoplasia, Type Iv

Diseases related to Multiple Endocrine Neoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 551)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iv 33.0 RET PRKAR1A MEN1 CDKN1B CDC73
2 multiple endocrine neoplasia, type iib 32.8 SDHD SDHB RET NF1 MEN1 GDNF
3 zollinger-ellison syndrome 32.8 MEN1 GAST CHGA
4 islet cell tumor 32.6 RET MEN1 GAST CHGA CALCA
5 glucagonoma 32.6 GAST CHGB CHGA
6 familial isolated pituitary adenoma 32.5 MEN1 CDKN1B
7 pituitary adenoma, prolactin-secreting 32.4 PRKAR1A MEN1 CHGB CHGA
8 vipoma 32.4 MEN1 GAST CHGA CALCA
9 pancreatic cholera 32.3 MEN1 GAST CHGA CALCA
10 carcinoid tumors, intestinal 32.3 MEN1 GAST CHGB CHGA
11 thyroid carcinoma 32.2 TG RET NEAT1 CALCA
12 acth-secreting pituitary adenoma 32.2 PRKAR1A MEN1 CDKN1B
13 pituitary adenoma 32.1 PRKAR1A MEN1 CHGB CHGA CDKN1B
14 gastrinoma 32.0 MEN1 GAST CHGA
15 multiple endocrine neoplasia, type iia 31.8 VHL SDHD SDHC SDHB RET PNMT
16 thyroid gland medullary carcinoma 31.8 TG RET MEN1 GDNF GAST CHGA
17 hereditary paraganglioma-pheochromocytoma syndromes 31.8 VHL SDHD SDHC SDHB RET NF1
18 thyroid carcinoma, familial medullary 31.7 VHL TG RET PRKAR1A MEN1 GDNF
19 multiple endocrine neoplasia, type i 31.7 VHL SDHD SDHC SDHB RET PRKAR1A
20 hyperparathyroidism 31.6 RET PRKAR1A MEN1 GAST CHGA CDKN1B
21 adrenal carcinoma 31.6 SDHD SDHB PRKAR1A MEN1 CHGA
22 neuroma 31.5 RET NF1 GDNF CALCA
23 primary hyperparathyroidism 31.4 RET PRKAR1A MEN1 GAST CHGA CDKN1B
24 hypoparathyroidism 31.4 RET PRKAR1A CALCA
25 neuroendocrine tumor 31.4 SDHD SDHB RET MEN1 GAST CHGB
26 carcinoid syndrome 31.3 SDHD MEN1 CHGA CALCA
27 constipation 31.3 RET GDNF GAST CHGA CALCA
28 pancreatic gastrinoma 31.2 MEN1 GAST CHGA
29 duodenal gastrinoma 31.2 MEN1 GAST CHGA
30 pheochromocytoma 31.2 VHL SDHD SDHC SDHB RET PNMT
31 ganglioneuroma 31.2 RET PNMT CHGA
32 neuroendocrine carcinoma 31.1 GAST CHGA CALCA
33 adenoma 31.1 VHL TG RET PRKAR1A MEN1 CHGA
34 hirschsprung disease 1 31.1 RET GFRA4 GDNF CALCA
35 hyperparathyroidism 1 31.1 MEN1 CDC73
36 thyroid tumor 31.0 RET PRKAR1A
37 goiter 31.0 TG RET CALCA
38 pancreatic endocrine carcinoma 30.9 MEN1 GAST CHGA
39 malignant pheochromocytoma 30.9 SDHB PNMT CHGA CALCA
40 parathyroid adenoma 30.9 RET PRKAR1A MEN1 CHGB CHGA CDKN1B
41 adrenal cortical adenoma 30.9 PRKAR1A MEN1 CHGA
42 conn's syndrome 30.8 PRKAR1A MEN1 CHGA CALCA
43 achalasia 30.8 RET GDNF GAST
44 multiple mucosal neuroma 30.7 RET MEN1 GDNF CALCA
45 gastric neuroendocrine neoplasm 30.7 MEN1 GAST CHGA
46 parathyroid carcinoma 30.7 TG RET MEN1 CDC73 CALCA
47 ectopic cushing syndrome 30.7 CHGA CALCA
48 neurofibromatosis 30.7 VHL SDHD SDHB RET NF1
49 nodular goiter 30.6 TG RET CALCA
50 somatostatinoma 30.6 NF1 MEN1 GAST CHGA CALCA

Graphical network of the top 20 diseases related to Multiple Endocrine Neoplasia:



Diseases related to Multiple Endocrine Neoplasia
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Symptoms & Phenotypes for Multiple Endocrine Neoplasia

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UMLS symptoms related to Multiple Endocrine Neoplasia:


diarrhea

GenomeRNAi Phenotypes related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.99 NF1 PRKAR1A RET SDHD VHL CDKN1B
2 Decreased viability GR00221-A-2 9.99 NF1 PRKAR1A RET SDHD VHL
3 Decreased viability GR00221-A-3 9.99 PRKAR1A
4 Decreased viability GR00221-A-4 9.99 NF1 PRKAR1A RET SDHD
5 Decreased viability GR00249-S 9.99 NF1 SDHD VHL
6 Decreased viability GR00301-A 9.99 RET VHL
7 Decreased viability GR00381-A-1 9.99 SDHD
8 Decreased viability GR00386-A-1 9.99 NF1
9 Decreased viability GR00402-S-2 9.99 RET
10 Decreased nuclei size in G2M GR00096-A 8.85 PNMT
11 Decreased sensitivity to paclitaxel GR00112-A-0 8.65 NF1

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.35 CDC73 CDKN1B CHGA CHGB GAST GDNF
2 homeostasis/metabolism MP:0005376 10.34 CDC73 CDKN1B CHGA CHGB GAST MEN1
3 cardiovascular system MP:0005385 10.26 CDC73 CDKN1B CHGA GDNF MEN1 NF1
4 hematopoietic system MP:0005397 10.23 CDC73 CDKN1B GDNF NF1 PLCB3 PRKAR1A
5 digestive/alimentary MP:0005381 10.21 CDC73 CDKN1B GAST GDNF MEN1 NF1
6 mortality/aging MP:0010768 10.21 CDC73 CDKN1B CHGA GAST GDNF MEN1
7 immune system MP:0005387 10.18 CDC73 CDKN1B GAST GDNF MEN1 NF1
8 embryo MP:0005380 10.15 CDC73 CDKN1B MEN1 NF1 PLCB3 PRKAR1A
9 muscle MP:0005369 10.02 CDC73 CDKN1B CHGA GDNF MEN1 NF1
10 neoplasm MP:0002006 10 CDC73 CDKN1B GAST MEN1 NF1 PRKAR1A
11 nervous system MP:0003631 9.9 CDC73 CDKN1B CHGA CHGB GDNF MEN1
12 renal/urinary system MP:0005367 9.56 CDC73 CDKN1B CHGA GDNF NF1 RET
13 reproductive system MP:0005389 9.32 CDC73 CDKN1B CHGA GDNF MEN1 NF1
Sources

Drugs & Therapeutics for Multiple Endocrine Neoplasia

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Drugs for Multiple Endocrine Neoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
2
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
3 Gastrointestinal Agents Phase 4
4 Anti-Ulcer Agents Phase 4
5 Antacids Phase 4
6 Proton Pump Inhibitors Phase 4
7
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
8 Hormones Phase 3
9 Hormone Antagonists Phase 3
10
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
11
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
12
Lenvatinib Approved, Investigational Phase 2 417716-92-8
13
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
14
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
15
Pertuzumab Approved Phase 2 380610-27-5, 145040-37-5 2540
16 Mitogens Phase 2
17 Endothelial Growth Factors Phase 2
18 Antineoplastic Agents, Hormonal Phase 2
19 Immunosuppressive Agents Phase 2
20 Immunologic Factors Phase 2
21 Protein Kinase Inhibitors Phase 2
22 Antineoplastic Agents, Immunological Phase 2
23
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
24 Immunoglobulins Phase 1
25 gamma-Globulins Phase 1
26 Immunoglobulins, Intravenous Phase 1
27 Antibodies Phase 1
28 Rho(D) Immune Globulin Phase 1
29
Parathyroid hormone Approved, Investigational 9002-64-6
30
Morphine Approved, Investigational 57-27-2 5288826
31
Histamine Approved, Investigational 51-45-6, 75614-87-8 774
32
Vancomycin Approved 1404-90-6 441141 14969
33
Ethanol Approved 64-17-5 702
34
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
35
Phenylalanine Approved, Investigational, Nutraceutical Early Phase 1 63-91-2 6140
36
Calcitonin gene-related peptide Investigational 83652-28-2
37 Radiopharmaceuticals Early Phase 1
38 Edotreotide Early Phase 1
39 Dihydroxyphenylalanine
40
Histamine Phosphate 51-74-1 65513
41 Calcium, Dietary
42 calcitonin
43 Katacalcin
44
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Long-Term Study of the Efficacy and Safety of Lansoprazole in the Treatment of Zollinger-Ellison and Other Acid Hypersecretors Completed NCT00204373 Phase 4 Lansoprazole (Prevacid)
2 Non-functioning Pancreatic Neuroendocrine Tumors (NF-pNETs) in Multiple Endocrine Neoplasia Type 1 (MEN1) Treated With Somatostatin Analogs (SA) Versus NO Treatment - a Prospective, Randomized, Controlled Multicenter Study Not yet recruiting NCT02705651 Phase 3 Somatostatin-Analog
3 Perfusion CT as Predictive Biomarker in a Phase II Study of Ziv-Aflibercept in Patients With Advanced Pancreatic Neuroendocrine Tumors Completed NCT02101918 Phase 2
4 A Phase 2 Study of GW786034 (Pazopanib) in Advanced Low-Grade or Intermediate-Grade Neuroendocrine Carcinoma Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
5 Phase I/II Trial of Vandetanib (ZD6474, ZACTIMA) in Children and Adolescents With Hereditary Medullary Thyroid Carcinoma Completed NCT00514046 Phase 1, Phase 2 Vandetanib
6 A Phase II, Open-Label Study To Assess The Efficacy and Tolerability of ZD6474 (ZACTIMAâ„¢ ) 100 mg Monotherapy In Subjects With Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer Completed NCT00358956 Phase 2 ZD6474 (vandetanib)
7 Efficacy and Safety of High Dose Regimen of Octreotide LAR in Patients With Neuroendocrine Tumors in Progressive Disease: A Phase II, Open, Multicentric Prospective Study Completed NCT00990535 Phase 2 Octreotide-LAR
8 A Phase II Study of Lenvatinib in Combination With Everolimus in Patients With Advanced Carcinoid Tumors Recruiting NCT03950609 Phase 2 Everolimus;Lenvatinib
9 Phase II Study of Sorafenib (BAY 43-9006) in Patients With Metastatic Medullary Thyroid Carcinoma Active, not recruiting NCT00390325 Phase 2 Sorafenib Tosylate
10 A Phase II Study of Pertuzumab and Erlotinib for Metastatic or Unresectable Neuroendocrine Tumors Terminated NCT00947167 Phase 2 pertuzumab;erlotinib
11 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy in Patients With Stiff-Man Syndrome: A Double-Blind, Placebo-Controlled Trial Completed NCT00001550 Phase 1 IVIg
12 A Phase 1 Study of Veliparib (ABT-888) in Combination With Capecitabine and Temozolomide in Advanced Well-Differentiated Neuroendocrine Tumors Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
13 Type 1 Multiple Endocrine Neoplasia : a Cohort Study of the Endocrine Tumor Study Group (GTE) Unknown status NCT03262129
14 An Expanded Access Imaging of Neuroendocrine Tumors Using 68Ga-DOTA-TOC Completed NCT03001349 Early Phase 1 Gallium Ga 68-Edotreotide
15 A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers Completed NCT01794676
16 Study of Molecular Pathways in Medullary Thyroid Carcinoma (MTC) and Correlation of Molecular Data With Clinical Behavior of the MTC in Individuals Patients Completed NCT01424878
17 Psychosocial Aspects of Multiple Endocrine Neoplasia (MEN) Syndromes Completed NCT00501449
18 Studies of Hyperparathyroidism and Related Disorders Completed NCT00001277 68Ga-Dotatate;18F-DOPA
19 Genetic Polymorphisms Associated With Histamine Disposition in Children With Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122
20 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
21 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
22 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
23 Registry for Multiple Endocrine Neoplasia Syndromes: MEN1/MEN2 Recruiting NCT03048279
24 Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients Recruiting NCT03048266
25 Family Studies in Metabolic Diseases and Mineral Metabolism Recruiting NCT00001345
26 Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET) Recruiting NCT03053999
27 Overall and Disease Specific Survival in Patients With Confirmed MEN1 With or Without PNET (Pancreatic Neuroendocrine Tumors) Active, not recruiting NCT03043508
28 Study and Monitoring of Multiple Endocrine Neoplasia Type 1 Not yet recruiting NCT03966612
29 The Registry of Oncology Outcomes Associated With Testing and Treatment (ROOT) Not yet recruiting NCT04028479 Systemic Treatment (T)

Search NIH Clinical Center for Multiple Endocrine Neoplasia

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Genetic Tests for Multiple Endocrine Neoplasia

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Genetic tests related to Multiple Endocrine Neoplasia:

# Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia 29
Sources

Anatomical Context for Multiple Endocrine Neoplasia

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MalaCards organs/tissues related to Multiple Endocrine Neoplasia:

40
Thyroid, Pituitary, Pancreas, Adrenal Gland, Pancreatic Islet, Thymus, Skin
Sources

Publications for Multiple Endocrine Neoplasia

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Articles related to Multiple Endocrine Neoplasia:

(show top 50) (show all 5555)
# Title Authors PMID Year
1
Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC. 61 54
20083156 2010
2
The tumor suppressor parafibromin is required for posttranscriptional processing of histone mRNA. 54 61
19908240 2010
3
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. 61 54
19215943 2009
4
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. 54 61
19576851 2009
5
Identification and prevention of genotyping errors caused by G-quadruplex- and i-motif-like sequences. 54 61
19406917 2009
6
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. 54 61
19522823 2009
7
Use of mouse models to understand the molecular basis of tissue-specific tumorigenesis in the Carney complex. 61 54
19522826 2009
8
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 54 61
19336503 2009
9
Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. 54 61
19177457 2009
10
Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations. 54 61
18710468 2009
11
Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma. 54 61
19606248 2009
12
Menin, histone h3 methyltransferases, and regulation of cell proliferation: current knowledge and perspective. 61 54
19075677 2008
13
Possible association between Carney complex and multiple endocrine neoplasia type 1 phenotypes. 61 54
19169494 2008
14
A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations. 54 61
18445140 2008
15
Mutational analysis of CDKN1B, a candidate tumor-suppressor gene, in refractory secondary/tertiary hyperparathyroidism. 61 54
18288099 2008
16
Cell lineage-specific interactions between Men1 and Rb in neuroendocrine neoplasia. 61 54
17893233 2008
17
Inherited cancer predisposition syndromes in Greece. 54 61
18505076 2008
18
A novel RET kinase-beta-catenin signaling pathway contributes to tumorigenesis in thyroid carcinoma. 61 54
18316596 2008
19
RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. 61 54
18206480 2008
20
Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE). 54 61
18209889 2007
21
Chromogranin a expression in phaeochromocytomas associated with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. 54 61
18046660 2007
22
Mutations in genes causing human familial isolated hyperparathyroidism do not account for hyperparathyroidism in Keeshond dogs. 61 54
17158076 2007
23
[Medullary thyroid carcinoma]. 54 61
17572372 2007
24
Familial pituitary adenomas with a heterogeneous functional pattern: clinical and genetic features. 61 54
17993773 2007
25
RET signaling-induced SPHK1 gene expression plays a role in both GDNF-induced differentiation and MEN2-type oncogenesis. 54 61
17555548 2007
26
[A Multiple endocrine neoplasia type-1 observatory in a French-speaking area. A tool from the Endocrine Tumor study Group (GTE)]. 54 61
17379178 2007
27
Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice. 61 54
17514588 2007
28
Proteomic profiling of von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 pheochromocytomas reveals different expression of chromogranin B. 61 54
17639059 2007
29
[Familial pituitary adenomas: clinical and genetic aspects]. 61 54
17961654 2007
30
Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma. 54 61
17453286 2007
31
A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1. 61 54
17388795 2007
32
[Diagnostic and therapeutic procedures in pheochromocytoma: current trends]. 61 54
17578179 2007
33
Molecular genetics of the cAMP-dependent protein kinase pathway and of sporadic pituitary tumorigenesis. 54 61
17613552 2007
34
A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report. 61 54
17411461 2007
35
[Medullary thyroid carcinoma and some of its particularities]. 61 54
17897902 2007
36
Phaeochromocytoma, new genes and screening strategies. 61 54
17121518 2006
37
Tumours of familial origin in the head and neck. 61 54
16857415 2006
38
The p27Kip1 tumor suppressor gene: Still a suspect or proven guilty? 54 61
17097557 2006
39
Structure and chemical inhibition of the RET tyrosine kinase domain. 61 54
16928683 2006
40
Current concepts in RET-related genetics, signaling and therapeutics. 61 54
16979782 2006
41
Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations. 61 54
16304664 2006
42
[Thyroid carcinomas and Hirschsprung's disease--10-year experience with molecular genetic testing of the RET proto-oncogene]. 61 54
17063805 2006
43
An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma. 61 54
16954442 2006
44
17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia. 61 54
16772351 2006
45
Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias. 61 54
16931959 2006
46
Molecular implications of RET mutations for pheochromocytoma risk in multiple endocrine neoplasia 2. 61 54
17102091 2006
47
Genetic testing in pheochromocytoma: increasing importance for clinical decision making. 54 61
17102076 2006
48
Transcriptional regulation of phenylethanolamine N-methyltransferase in pheochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. 54 61
17102092 2006
49
Expression of mRNAs for succinate dehydrogenase subunits and related genes in pheochromocytoma. 61 54
17102093 2006
50
Characteristics of pheochromocytoma in a 4- to 20-year-old population. 54 61
17102069 2006
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Variations for Multiple Endocrine Neoplasia

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ClinVar genetic disease variations for Multiple Endocrine Neoplasia:

6 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RET NM_020975.6(RET):c.2410G>T (p.Val804Leu) SNV Pathogenic 13946 rs79658334 10:43614996-43614996 10:43119548-43119548
2 RET NM_020975.6(RET):c.1699G>A (p.Asp567Asn) SNV Conflicting interpretations of pathogenicity 136103 rs147219360 10:43608351-43608351 10:43112903-43112903
3 RET NM_020975.6(RET):c.2523G>T (p.Pro841=) SNV Uncertain significance 184140 rs56195026 10:43615109-43615109 10:43119661-43119661
4 RET NM_020975.6(RET):c.*500C>G SNV Uncertain significance 878467 10:43624217-43624217 10:43128769-43128769
5 RET NM_020975.6(RET):c.*883G>A SNV Uncertain significance 877490 10:43624600-43624600 10:43129152-43129152
6 RET NM_020975.6(RET):c.1062T>C (p.Tyr354=) SNV Uncertain significance 849703 10:43602018-43602018 10:43106570-43106570
7 RET NM_020975.6(RET):c.867+4C>G SNV Uncertain significance 877981 10:43600645-43600645 10:43105197-43105197
8 RET NM_020975.6(RET):c.1326G>T (p.Leu442=) SNV Uncertain significance 878084 10:43606717-43606717 10:43111269-43111269
9 RET NM_020975.6(RET):c.*1430A>G SNV Uncertain significance 878562 10:43625147-43625147 10:43129699-43129699
10 LOC106736614 NM_020975.6(RET):c.-51C>T SNV Uncertain significance 878710 10:43572656-43572656 10:43077208-43077208
11 RET NM_020975.6(RET):c.*159G>T SNV Uncertain significance 879000 10:43623876-43623876 10:43128428-43128428
12 RET NM_020975.6(RET):c.*1112A>G SNV Uncertain significance 879101 10:43624829-43624829 10:43129381-43129381
13 RET NM_020975.6(RET):c.*1886T>G SNV Uncertain significance 878659 10:43625603-43625603 10:43130155-43130155
14 RET NM_020975.6(RET):c.*1900C>A SNV Uncertain significance 879260 10:43625617-43625617 10:43130169-43130169
15 RET NM_020975.6(RET):c.*1212C>T SNV Uncertain significance 299927 rs551902553 10:43624929-43624929 10:43129481-43129481
16 RET NM_020975.6(RET):c.*506G>T SNV Uncertain significance 299912 rs886046995 10:43624223-43624223 10:43128775-43128775
17 MEN1 NM_000244.3(MEN1):c.1779G>A (p.Lys593=) SNV Uncertain significance 215962 rs373669288 11:64571875-64571875 11:64804403-64804403
18 RET NM_020975.6(RET):c.*1489G>A SNV Uncertain significance 299933 rs535080963 10:43625206-43625206 10:43129758-43129758
19 RET NM_020975.6(RET):c.2876G>A (p.Arg959Gln) SNV Uncertain significance 299901 rs745650861 10:43619193-43619193 10:43123745-43123745
20 RET NM_020975.6(RET):c.1601T>C (p.Leu534Pro) SNV Uncertain significance 877094 10:43607625-43607625 10:43112177-43112177
21 RET NM_020975.6(RET):c.1890C>T (p.Cys630=) SNV Uncertain significance 215909 rs781145070 10:43609938-43609938 10:43114490-43114490
22 RET NM_020975.6(RET):c.2403C>T (p.Leu801=) SNV Uncertain significance 486304 rs1554819519 10:43614989-43614989 10:43119541-43119541
23 RET NM_020975.6(RET):c.*1533A>G SNV Uncertain significance 877587 10:43625250-43625250 10:43129802-43129802
24 LOC106736614 NM_020975.6(RET):c.-173A>G SNV Uncertain significance 877684 10:43572534-43572534 10:43077086-43077086
25 RET NM_020975.6(RET):c.484C>T (p.Pro162Ser) SNV Uncertain significance 568416 rs1564490122 10:43597936-43597936 10:43102488-43102488
26 RET NM_020975.6(RET):c.1879+14G>A SNV Uncertain significance 299895 rs532810255 10:43609137-43609137 10:43113689-43113689
27 RET NM_020975.6(RET):c.334C>T (p.Arg112Cys) SNV Uncertain significance 216726 rs762626209 10:43596167-43596167 10:43100719-43100719
28 RET NM_020975.6(RET):c.2847A>G (p.Gly949=) SNV Uncertain significance 299900 rs886046989 10:43619164-43619164 10:43123716-43123716
29 RET NM_020975.6(RET):c.693C>T (p.Arg231=) SNV Uncertain significance 136123 rs576806329 10:43600467-43600467 10:43105019-43105019
30 RET NM_020975.6(RET):c.1798C>T (p.Arg600Trp) SNV Uncertain significance 477327 rs745418960 10:43609042-43609042 10:43113594-43113594
31 RET NM_020975.6(RET):c.603C>T (p.Ser201=) SNV Uncertain significance 477379 rs780120451 10:43598055-43598055 10:43102607-43102607
32 RET NM_020975.6(RET):c.628G>A (p.Glu210Lys) SNV Uncertain significance 405554 rs1060500762 10:43600402-43600402 10:43104954-43104954
33 RET NM_020975.6(RET):c.1165C>T (p.Leu389Phe) SNV Uncertain significance 405539 rs895556824 10:43604580-43604580 10:43109132-43109132
34 RET NM_020975.6(RET):c.1264-8C>T SNV Uncertain significance 477310 rs769595884 10:43606647-43606647 10:43111199-43111199
35 RET NM_020975.6(RET):c.1880-5C>A SNV Uncertain significance 877158 10:43609923-43609923 10:43114475-43114475
36 RET NM_020975.6(RET):c.2939+7G>A SNV Uncertain significance 477358 rs374565577 10:43619263-43619263 10:43123815-43123815
37 RET NM_020975.6(RET):c.*180G>A SNV Uncertain significance 880217 10:43623897-43623897 10:43128449-43128449
38 RET NM_020975.6(RET):c.*1516C>T SNV Uncertain significance 880357 10:43625233-43625233 10:43129785-43129785
39 RET NM_020975.6(RET):c.2261C>T (p.Thr754Met) SNV Uncertain significance 135177 rs181856591 10:43612156-43612156 10:43116708-43116708
40 RET NM_020975.6(RET):c.1760-12G>A SNV Uncertain significance 24889 rs377767392 10:43608992-43608992 10:43113544-43113544
41 RET NM_020975.6(RET):c.*1109T>C SNV Uncertain significance 299924 rs886047006 10:43624826-43624826 10:43129378-43129378
42 RET NM_020975.6(RET):c.1618A>G (p.Arg540Gly) SNV Uncertain significance 299894 rs543376293 10:43607642-43607642 10:43112194-43112194
43 RET NM_020975.6(RET):c.*446A>G SNV Uncertain significance 299909 rs886046992 10:43624163-43624163 10:43128715-43128715
44 RET NM_020975.6(RET):c.*368G>T SNV Uncertain significance 299907 rs756051983 10:43624085-43624085 10:43128637-43128637
45 MEN1 NM_000244.3(MEN1):c.*570C>A SNV Uncertain significance 305296 rs886048469 11:64571236-64571236 11:64803764-64803764
46 RET NM_020975.6(RET):c.1109T>A (p.Met370Lys) SNV Uncertain significance 299890 rs886046987 10:43604524-43604524 10:43109076-43109076
47 RET NM_020975.6(RET):c.957C>A (p.Leu319=) SNV Uncertain significance 184139 rs149926238 10:43601913-43601913 10:43106465-43106465
48 RET NM_020975.6(RET):c.*824G>T SNV Uncertain significance 299920 rs886047002 10:43624541-43624541 10:43129093-43129093
49 LOC106736614 NM_020975.6(RET):c.-187C>A SNV Uncertain significance 299883 rs886046983 10:43572520-43572520 10:43077072-43077072
50 RET NM_020975.6(RET):c.*553G>T SNV Uncertain significance 299915 rs886046998 10:43624270-43624270 10:43128822-43128822

Cosmic variations for Multiple Endocrine Neoplasia:

9 (show top 50) (show all 136)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88301868 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 4
2 COSM90654925 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 4
3 COSM88294143 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 4
4 COSM90652830 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.373G>T p.V125F 3:10149819-10149819 4
5 COSM88293303 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 4
6 COSM88288959 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 4
7 COSM88296074 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 4
8 COSM88292246 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 4
9 COSM90652721 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.368A>G p.Q123R 3:10149814-10149814 4
10 COSM88292324 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 3:10149819-10149819 4
11 COSM90657160 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 4
12 COSM88305342 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 4
13 COSM90653943 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>G p.K118E 3:10149798-10149798 4
14 COSM90668341 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.369G>T p.Q123H 3:10149815-10149815 4
15 COSM88292236 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 4
16 COSM90652730 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 4
17 COSM90648957 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.359G>A p.R120Q 3:10149805-10149805 4
18 COSM90664073 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.341-3225T>G p.? 3:10146562-10146562 4
19 COSM90811579 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 4
20 COSM92347003 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 4
21 COSM142343426 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1289+3268T>C p.? 10:43114500-43114500 4
22 COSM142343204 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.*102T>C p.? 10:43121968-43121968 4
23 COSM92347226 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 4
24 COSM90811811 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 4
25 COSM93530486 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 4
26 COSM93656552 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 4
27 COSM93692982 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 4
28 COSM93650970 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 4
29 COSM120509060 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 4
30 COSM93535461 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 4
31 COSM109968573 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 4
32 COSM109960979 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 4
33 COSM93512112 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 4
34 COSM93508888 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 4
35 COSM93509879 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.? 17:31227607-31227607 4
36 COSM120509488 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 4
37 COSM93507010 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7237C>T p.Q2413* 17:31349230-31349230 4
38 COSM93662933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 4
39 COSM93654948 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 4
40 COSM93504734 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 4
41 COSM93507162 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 4
42 COSM120515658 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 4
43 COSM93650764 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 17:31349230-31349230 4
44 COSM93517207 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7519C>T p.Q2507* 17:31352381-31352381 4
45 COSM109960306 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1724A>T p.Y575F 17:31221932-31221932 4
46 COSM93652933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 4
47 COSM93668028 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 17:31223443-31223443 4
48 COSM93647950 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 4
49 COSM93688082 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 17:31338739-31338739 4
50 COSM109961525 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 4
Sources

Expression for Multiple Endocrine Neoplasia

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Search GEO for disease gene expression data for Multiple Endocrine Neoplasia.
Sources

Pathways for Multiple Endocrine Neoplasia

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Pathways related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Glioblastoma Multiforme 63
11.38 PLCB3 NF1 CDKN1B
2
Citrate cycle (TCA cycle) 36
Show member pathways
 11.14 SDHD SDHC SDHB
3
Aryl Hydrocarbon Receptor 1
10.48 RET NF1 CDKN1B
Sources

GO Terms for Multiple Endocrine Neoplasia

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Cellular components related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHD SDHC SDHB

Biological processes related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.72 VHL NF1 MEN1 CDKN1B CDC73
2 negative regulation of protein kinase activity GO:0006469 9.58 PRKAR1A NF1 CDKN1B
3 response to pain GO:0048265 9.48 RET CALCA
4 sympathetic nervous system development GO:0048485 9.46 NF1 GDNF
5 enteric nervous system development GO:0048484 9.43 RET GDNF
6 negative regulation of epithelial cell proliferation GO:0050680 9.43 MEN1 CDKN1B CDC73
7 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.37 RET GFRA4
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.16 SDHD SDHC
9 tricarboxylic acid cycle GO:0006099 9.13 SDHD SDHC SDHB
10 MAPK cascade GO:0000165 9.02 RET NF1 MEN1 GFRA4 GDNF

Molecular functions related to Multiple Endocrine Neoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.43 SDHD SDHC SDHB
2 ubiquinone binding GO:0048039 9.16 SDHD SDHB
3 succinate dehydrogenase activity GO:0000104 8.96 SDHD SDHC
4 hormone activity GO:0005179 8.92 TG GAST CHGB CALCA
Sources

Sources for Multiple Endocrine Neoplasia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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