eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| eclampsia | ||||
| Disease ID | 1209 |
|---|---|
| Disease | eclampsia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:43) C2712322 | tachycardia C2186532 | liver disease C1963229 | retinal detachment C1963154 | renal failure C1963101 | encephalopathy C1962972 | proteinuria C1959629 | seizure C1402315 | vascular lesions C1393529 | vascular complications C0752303 | urological manifestations C0456909 | blindness C0270612 | leukoencephalopathy C0265110 | cerebral vasospasm C0242342 | sheehan's syndrome C0221505 | cerebral lesions C0221505 | brain lesions C0221021 | microangiopathic haemolytic anaemia C0162739 | hellp syndrome C0155320 | cortical blindness C0151740 | raised intracranial pressure C0151731 | hepatic infarction C0151620 | hypertensive encephalopathy C0085616 | vasospasm C0041948 | uraemia C0040034 | thrombocytopenia C0038454 | cerebral infarction C0036572 | seizures C0036572 | convulsion C0035222 | adult respiratory distress syndrome C0034152 | henoch-schonlein purpura C0032987 | extra-uterine pregnancy C0028961 | oliguria C0027765 | neurological disorders C0022116 | ischemia C0021308 | infarction C0020538 | hypertensive vascular disease C0019080 | hemorrhage C0019048 | haemoglobinuria C0013604 | oedema C0012739 | disseminated intravascular coagulation C0010073 | coronary artery spasm C0009951 | convulsions C0001339 | acute pancreatitis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:16) C0033687 | proteinuria | 13 C0162739 | hellp syndrome | 9 C0085584 | encephalopathy | 8 C0036572 | seizures | 8 C0019080 | hemorrhage | 7 C0009951 | convulsions | 6 C0013604 | oedema | 3 C0036572 | seizure | 3 C0042396 | vasospasm | 2 C0270612 | leukoencephalopathy | 2 C0001339 | acute pancreatitis | 1 C0456909 | blindness | 1 C0035305 | retinal detachment | 1 C0155320 | cortical blindness | 1 C0035078 | renal failure | 1 C0022116 | ischemia | 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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| (Waiting for update.) | |
All Snps(Total Genotypes:20) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1051740 | 16147638 | 2052 | EPHX1 | umls:C0013537 | BeFree | Neither maternal nor fetal EPHX Tyr113His and GSTP1 Ile105Val polymorphisms appear to contribute significantly to the pathophysiology of pre-eclampsia in the Coloured population of the Western Cape region of South Africa. | 0.001085767 | 2004 | EPHX1 | 1 | 225831932 | T | C |
| rs1137101 | 20070288 | 54512 | EXOSC4 | umls:C0013537 | BeFree | In this retrospective case-control study, 103 patients with PIH [gestational hypertension (GH) n = 39; preeclampsia n = 27; eclampsia n = 5; HELLP n = 32] and 100 controls were analyzed for the LEP tetranucleotide repeat (TTTC)(n) and the leptin receptor (LEPR) R223Q and PPARgamma2 P12A substitutions. | 0.000271442 | 2010 | LEPR | 1 | 65592830 | A | G |
| rs1137101 | 20070288 | 3953 | LEPR | umls:C0013537 | BeFree | In this retrospective case-control study, 103 patients with PIH [gestational hypertension (GH) n = 39; preeclampsia n = 27; eclampsia n = 5; HELLP n = 32] and 100 controls were analyzed for the LEP tetranucleotide repeat (TTTC)(n) and the leptin receptor (LEPR) R223Q and PPARgamma2 P12A substitutions. | 0.001085767 | 2010 | LEPR | 1 | 65592830 | A | G |
| rs1341667 | 20716964 | 219736 | STOX1 | umls:C0013537 | BeFree | The 10q22 chromosomal region with genomic linkage to pre-eclampsia in Dutch females shows a parent-of-origin effect with maternal transmission of the Y153H susceptibility allele of the STOX1 gene. | 0.001357209 | 2010 | STOX1 | 10 | 68882104 | T | C |
| rs1424954 | 25659497 | 92 | ACVR2A | umls:C0013537 | BeFree | A polymorphism located in the promoter region of ACVR2A (rs1424954 (A > G)) has previously been shown to be significantly associated with pre-eclampsia. | 0.001085767 | 2015 | ACVR2A | 2 | 147843225 | G | A |
| rs142724505 | 20070288 | 54512 | EXOSC4 | umls:C0013537 | BeFree | In this retrospective case-control study, 103 patients with PIH [gestational hypertension (GH) n = 39; preeclampsia n = 27; eclampsia n = 5; HELLP n = 32] and 100 controls were analyzed for the LEP tetranucleotide repeat (TTTC)(n) and the leptin receptor (LEPR) R223Q and PPARgamma2 P12A substitutions. | 0.000271442 | 2010 | EXOSC4 | 8 | 144080528 | G | A |
| rs142724505 | 20070288 | 3953 | LEPR | umls:C0013537 | BeFree | In this retrospective case-control study, 103 patients with PIH [gestational hypertension (GH) n = 39; preeclampsia n = 27; eclampsia n = 5; HELLP n = 32] and 100 controls were analyzed for the LEP tetranucleotide repeat (TTTC)(n) and the leptin receptor (LEPR) R223Q and PPARgamma2 P12A substitutions. | 0.001085767 | 2010 | EXOSC4 | 8 | 144080528 | G | A |
| rs1695 | 16147638 | 2052 | EPHX1 | umls:C0013537 | BeFree | Neither maternal nor fetal EPHX Tyr113His and GSTP1 Ile105Val polymorphisms appear to contribute significantly to the pathophysiology of pre-eclampsia in the Coloured population of the Western Cape region of South Africa. | 0.001085767 | 2004 | GSTP1 | 11 | 67585218 | A | G |
| rs1799889 | 23180602 | 5054 | SERPINE1 | umls:C0013537 | BeFree | Association between the SERPINE1 (PAI-1) 4G/5G insertion/deletion promoter polymorphism (rs1799889) and pre-eclampsia: a systematic review and meta-analysis. | 0.001900093 | 2013 | SERPINE1 | 7 | 101126430 | A | G |
| rs1799983 | 16059745 | 4846 | NOS3 | umls:C0013537 | BeFree | The Glu298Asp variant of the endothelial nitric oxide synthase gene is associated with an increased risk for abruptio placentae in pre-eclampsia. | 0.002442977 | 2005 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 16059745 | 183 | AGT | umls:C0013537 | BeFree | Among these are the angiotensinogen (AGT) gene variant Met235Threo, which has been associated with pre-eclampsia and the endothelial nitric oxide synthase (eNOS) polymorphism Glu298Asp, which has been associated with both pre-eclampsia and abruptio placentae, a condition that often co-exists with pre-eclampsia. | 0.005895776 | 2005 | NOS3 | 7 | 150999023 | T | G |
| rs2507800 | 22205728 | 284 | ANGPT1 | umls:C0013537 | BeFree | Maternal ANGPT1 rs2507800 TT genotype is associated with a reduced risk for pre-eclampsia, hypertensive SGA and abnormal uterine artery Doppler. | 0.000271442 | 2012 | ANGPT1;LOC105375702 | 8 | 107250441 | T | A |
| rs3783550 | 25322977 | 3552 | IL1A | umls:C0013537 | BeFree | On the other hand, the rs3783550 polymorphism in the interleukin 1 alpha gene is correlated to pre-eclampsia, indicating that women with the allele A have a higher probability of developing the disease. | 0.000271442 | 2014 | IL1A | 2 | 112775308 | G | T |
| rs4680 | 22886584 | 1312 | COMT | umls:C0013537 | BeFree | The Val158Met polymorphism was more frequent in controls than in PE patients and the placental presence of COMT polymorphism was associated with a decreased risk of developing PE [PE: 23.1% vs control: 66.6%; χ(2) = 10.9, p = 0.0041]. | 0.000542884 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4986790 | 20818954 | 7099 | TLR4 | umls:C0013537 | BeFree | Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr399Ile) genes were screened in 94 women with pre-eclampsia and 176 healthy pregnancy controls. | 0.000814326 | 2010 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 20818954 | 7097 | TLR2 | umls:C0013537 | BeFree | Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr399Ile) genes were screened in 94 women with pre-eclampsia and 176 healthy pregnancy controls. | 0.000814326 | 2010 | TLR4 | 9 | 117713024 | A | G |
| rs4986791 | 20818954 | 7097 | TLR2 | umls:C0013537 | BeFree | Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr399Ile) genes were screened in 94 women with pre-eclampsia and 176 healthy pregnancy controls. | 0.000814326 | 2010 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 20818954 | 7099 | TLR4 | umls:C0013537 | BeFree | Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr399Ile) genes were screened in 94 women with pre-eclampsia and 176 healthy pregnancy controls. | 0.000814326 | 2010 | TLR4 | 9 | 117713324 | C | T |
| rs5743708 | 20818954 | 7097 | TLR2 | umls:C0013537 | BeFree | Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr399Ile) genes were screened in 94 women with pre-eclampsia and 176 healthy pregnancy controls. | 0.000814326 | 2010 | TLR2 | 4 | 153705165 | G | A |
| rs5743708 | 20818954 | 7099 | TLR4 | umls:C0013537 | BeFree | Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr399Ile) genes were screened in 94 women with pre-eclampsia and 176 healthy pregnancy controls. | 0.000814326 | 2010 | TLR2 | 4 | 153705165 | G | A |
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 | 1209 |
|---|---|
| Disease | eclampsia |
| Case | (Waiting for update.) |