PedAM
Pediatric Disease Annotations & Medicines
| lipid metabolism disorder | ||||
| Disease ID | 853 |
|---|---|
| Disease | lipid metabolism disorder |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0002637 | Brain ischemia | 1 HP:0003077 | Hyperlipidemia | 1 HP:0012115 | Liver inflammation | 1 HP:0008064 | Ichthyosis | 1 HP:0003201 | Rhabdomyolysis | 1 HP:0000822 | Hypertension | 1 HP:0007431 | Congenital ichthyosis | 1 |
| Disease ID | 853 |
|---|---|
| Disease | lipid metabolism disorder |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:3) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1801282 | 12042669 | 4023 | LPL | umls:C0154251 | BeFree | The aim of the present study was to investigate the relation between TG-related parameters considered in different clinical guidelines used in industrialized countries for the management of lipid disorders (namely fasting plasma TG, high density-lipoprotein cholesterol (HDL-C), non-HDL-C concentrations and total-C/HDL-C ratio) and the presence of LPL-null (P207L), LPL-defective (D9N), PPARalpha -L162V, apolipoprotein (apo) E and PPARgamma-P12A gene mutations, in a sample of 292 hypertriglyceridemic subjects treated with fenofibrate for 3 months. | 0.005005506 | 2002 | PPARG | 3 | 12351626 | C | G |
| rs1805192 | 12042669 | 4023 | LPL | umls:C0154251 | BeFree | The aim of the present study was to investigate the relation between TG-related parameters considered in different clinical guidelines used in industrialized countries for the management of lipid disorders (namely fasting plasma TG, high density-lipoprotein cholesterol (HDL-C), non-HDL-C concentrations and total-C/HDL-C ratio) and the presence of LPL-null (P207L), LPL-defective (D9N), PPARalpha -L162V, apolipoprotein (apo) E and PPARgamma-P12A gene mutations, in a sample of 292 hypertriglyceridemic subjects treated with fenofibrate for 3 months. | 0.005005506 | 2002 | PPARG | 3 | 12379739 | C | G |
| rs5882 | 19242900 | 1071 | CETP | umls:C0154251 | GAD | [contributes to the unfavorable changes of apoA-I and HDL-C when a high-P:S diet was replaced with a low-P:S diet] | 0.002367032 | 2009 | CETP | 16 | 56982180 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:17) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 1 | 55496039 | rs11206510 | T | C | rs11206510 | 23100282 | 0.0000076 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 1 | 109818530 | rs646776 | C | T | rs646776 | 23100282 | 3.90E-41 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 2 | 44072576 | rs4299376 | G | T | rs4299376 | 23100282 | 0.00000013 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 5 | 74651084 | rs3846662 | A | G | rs3846662 | 23100282 | 6.50E-09 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 6 | 160961137 | rs3798220 | T | C | rs3798220 | 23100282 | 2.60E-09 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 6 | 161010118 | rs10455872 | A | G | rs10455872 | 23100282 | 1.50E-11 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 10 | 128777390 | rs9733352 | G | C | rs9733352 | 23031429 | 4.00E-08 | NA | 0.06 | [0.038-0.082] unit increase | 1,720 European ancestry monozygotic twin individuals | European(1720) | ALL(1720) | EUR(1720) | ALL(1720) | Apolipoprotein Levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | D016633 | Apolipoprotein A-II | EFOID:0004732 | lipoprotein measurement | Metabolism disease | rs9733352-C | Twin Study | Multicenter Study | Clinical Trial |
| 16 | 56993324 | rs3764261 | C | A | rs3764261 | 23100282 | 0.0000028 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 16 | 56996288 | rs708272 | G | A | rs708272 | 23100282 | 0.000043 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 19 | 11202306 | rs6511720 | G | T | rs6511720 | 23100282 | 4.10E-27 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 19 | 11227602 | rs688 | C | T | rs688 | 23100282 | 0.000011 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 19 | 45247627 | rs4803750 | A | G | rs4803750 | 23100282 | 1.10E-29 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 19 | 45395619 | rs2075650 | A | G | rs2075650 | 23100282 | 3.70E-31 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 19 | 45412079 | rs7412 | C | T | rs7412 | 23100282 | 5.90E-154 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
| 19 | 45415640 | rs445925 | G | A | rs445925 | 23031429 | 2.00E-14 | APOB | 0.15 | [0.11-0.19] unit increase | 1,720 European ancestry monozygotic twin individuals | European(1720) | ALL(1720) | EUR(1720) | ALL(1720) | Apolipoprotein Levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | D016633 | Apolipoprotein A-II | EFOID:0004732 | lipoprotein measurement | Metabolism disease | rs445925-G | Twin Study | Multicenter Study | Clinical Trial |
| 19 | 45415640 | rs445925 | G | A | rs445925 | 23031429 | 4.00E-11 | APOE | 0.23 | [0.16-0.30] unit decrease | 1,720 European ancestry monozygotic twin individuals | European(1720) | ALL(1720) | EUR(1720) | ALL(1720) | Apolipoprotein Levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | D016633 | Apolipoprotein A-II | EFOID:0004732 | lipoprotein measurement | Metabolism disease | rs445925-G | Twin Study | Multicenter Study | Clinical Trial |
| 19 | 45422946 | rs4420638 | A | G | rs4420638 | 23100282 | 3.10E-32 | NA | NA | NA | 3,895 European ancestry individuals | European(3895) | ALL(3895) | EUR(3895) | ALL(3895) | Apolipoprotein B levels | HPOID:0003119 | Abnormality of lipid metabolism | DOID:3146 | lipid metabolism disorder | NA | NA | NA | NA | Metabolism disease | NA | Randomized Controlled Trial | Multicenter Study | Research Support, Non-U.S. Gov't |
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.) |
Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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