eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| conn syndrome | ||||
| Disease ID | 770 |
|---|---|
| Disease | conn syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:21) C0020538 | hypertension | 27 C0221002 | primary hyperparathyroidism | 6 C0001430 | adenoma | 6 C0206667 | adrenal adenoma | 5 C0155616 | secondary hypertension | 3 C0948265 | metabolic syndrome | 3 C2062372 | bilateral adrenal hyperplasia | 3 C0027709 | nephrocalcinosis | 2 C0020428 | hyperaldosteronism | 2 C0001624 | adrenal tumor | 2 C1393529 | vascular complications | 1 C0427008 | stiffness | 1 C0004093 | weakness | 1 C1609519 | adrenal myelolipoma | 1 C0001621 | adrenal disease | 1 C0023895 | liver disease | 1 C0020540 | malignant hypertension | 1 C0011847 | diabetes | 1 C0206667 | adrenocortical adenomas | 1 C0011849 | diabetes mellitus | 1 C0264641 | endocrine hypertension | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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All Snps(Total Genotypes:8) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs151052374 | 11275950 | 1585 | CYP11B2 | umls:C1384514 | BeFree | In this study we investigated the presence of the mutation D147E of CYP11B2 in a group of 128 patients with primary aldosteronism, 68 patients with essential hypertension and increased corticosterone production and in 48 normal volunteers. | 0.009153079 | 2001 | CYP11B2;GML | 8 | 142915200 | A | T |
| rs1799998 | 11587161 | 5972 | REN | umls:C1384514 | BeFree | The aim of the study was to investigate allele and genotype frequencies of the -344C/T polymorphism, located in the promoter region of the aldosterone synthase gene, in 83 patients with idiopathic low renin hypertension characterized by an increased aldosterone to renin ratio, including both patients with low renin essential hypertension (n=53) and subjects with idiopathic hyperaldosteronism (n=30), compared with 78 patients with normal to high renin essential hypertension and 126 normotensive control subjects. | 0.007328931 | 2001 | CYP11B2;LOC105375793 | 8 | 142918184 | A | G |
| rs1799998 | 12107246 | 1585 | CYP11B2 | umls:C1384514 | BeFree | The aim of our study was to identify genetic variants that influence the phenotype of patients with PA. We hypothesized that genetic variants potentially affecting aldosterone production (aldosterone synthase, CYP11B2), renal proximal tubule reabsorption (alpha-adducin), or the mechanisms of counterbalance leading to vasodilatation and sodium excretion (bradykinin B(2)-receptor, B(2)R) could influence the clinical and biochemical characteristics of patients with PA. We studied three polymorphisms of these genes (C-344T of CYP11B2, G460W of alpha-adducin, and C-58T of B(2)R) in 167 primary aldosteronism patients (56 with aldosterone-producing adenoma and 111 with idiopathic hyperaldosteronism). | 0.009153079 | 2002 | CYP11B2;LOC105375793 | 8 | 142918184 | A | G |
| rs1799998 | 11587161 | 1585 | CYP11B2 | umls:C1384514 | BeFree | The aim of the study was to investigate allele and genotype frequencies of the -344C/T polymorphism, located in the promoter region of the aldosterone synthase gene, in 83 patients with idiopathic low renin hypertension characterized by an increased aldosterone to renin ratio, including both patients with low renin essential hypertension (n=53) and subjects with idiopathic hyperaldosteronism (n=30), compared with 78 patients with normal to high renin essential hypertension and 126 normotensive control subjects. | 0.009153079 | 2001 | CYP11B2;LOC105375793 | 8 | 142918184 | A | G |
| rs2241766 | 19481913 | 9370 | ADIPOQ | umls:C1384514 | BeFree | Genetic analysis of T45G and G276T adiponectin gene polymorphisms showed that, while the genotypes 45G/G+G/T seemed to have a protective role on the metabolic complications, the genotype 276T/T defined PA and EH patients with a worse metabolic profile. | 0.000814326 | 2010 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853103 | T | G |
| rs2241766 | 23590605 | 9370 | ADIPOQ | umls:C1384514 | BeFree | T45G and G276T adiponectin gene polymorphisms in primary aldosteronism and healthy controls in an East Slovak population. | 0.000814326 | 2014 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853103 | T | G |
| rs2604204 | 23382865 | 3762 | KCNJ5 | umls:C1384514 | BeFree | The genetic variant rs2604204 of KCNJ5 is associated with sporadic PA in Chinese males, suggesting that KCNJ5 may be involved in the pathogenesis of sporadic PA in these particular patients. | 0.005157396 | 2013 | KCNJ5 | 11 | 128917535 | G | T |
| rs786205050 | NA | 8912 | CACNA1H | umls:C1384514 | CLINVAR | NA | 0.120542884 | NA | CACNA1H | 16 | 1212024 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 770 |
|---|---|
| Disease | conn syndrome |
| Case | (Waiting for update.) |