PedAM
Pediatric Disease Annotations & Medicines
| hyperlipidemia, familial combined | ||||
| Disease ID | 1867 |
|---|---|
| Disease | hyperlipidemia, familial combined |
| Synonym | broad floating betalipoproteinemia combined hyperlipidemia, familial combined hyperlipidemias, familial disorder hyperlipidemia mixed familial combined hyperlipidaemia familial combined hyperlipidemia familial combined hyperlipidemia (disorder) familial combined hyperlipidemia (disorder) [ambiguous] familial combined hyperlipidemias familial multiple lipoprotein-type hyperlipidaemia familial multiple lipoprotein-type hyperlipidemia familial multiple lipoprotein-type hyperlipidemia (disorder) fchl hyperapobetalipoproteinemia hyperlipidemia type iib hyperlipidemia, familial combined [disease/finding] hyperlipidemia, multiple lipoprotein type hyperlipidemia, multiple lipoprotein-type hyperlipidemias, familial combined hyperlipidemias, multiple lipoprotein-type hyperlipoproteinemia type iib lipoprotein-type hyperlipidemia, multiple lipoprotein-type hyperlipidemias, multiple mixed hyperlipidaemia mixed hyperlipidaemia (disorder) mixed hyperlipidemia multiple lipoprotein-type hyperlipidemia multiple lipoprotein-type hyperlipidemias multiple-type hyperlipidemia type iib hyperlipidemia type iib hyperlipoproteinemia |
| OMIM | |
| DOID | |
| ICD10 | |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:10) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1867 |
|---|---|
| Disease | hyperlipidemia, familial combined |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) HP:0001114 | Fatty deposits on eyelids HP:0001658 | Myocardial infarction HP:0008356 | Combined hyperlipidaemia |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1867 |
|---|---|
| Disease | hyperlipidemia, familial combined |
| 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:34) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1137101 | 16432543 | 3953 | LEPR | umls:C0020474 | BeFree | The Gln223Arg polymorphism in the leptin receptor is associated with familial combined hyperlipidemia. | 0.000271442 | 2006 | LEPR | 1 | 65592830 | A | G |
| rs12255372 | 17972059 | 338 | APOB | umls:C0020474 | BeFree | We investigated the effect of the TCF7L2 variants, rs7903146 and rs12255372, on FCHL and its component traits triacylglycerol (TG), total cholesterol (TC) and apolipoprotein B (ApoB) in 759 individuals from 55 Mexican families. | 0.013234638 | 2008 | TCF7L2 | 10 | 113049143 | G | T |
| rs12713559 | 7883971 | 338 | APOB | umls:C1704417 | UNIPROT | Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. | 0.249771907 | 1995 | APOB | 2 | 21006196 | G | A |
| rs150599989 | 22194190 | 27202 | C5AR2 | umls:C0020474 | BeFree | S323I polymorphism of the C5L2 gene was not identified in a Chinese population with familial combined hyperlipidemia or with type 2 diabetes. | 0.000542884 | 2011 | C5AR2 | 19 | 47341767 | G | A,T |
| rs150599989 | 16627811 | 27202 | C5AR2 | umls:C0020474 | BeFree | The S323I variant may alter C5L2 function and might be one molecular basis contributing to familial combined hyperlipidemia. | 0.000542884 | 2006 | C5AR2 | 19 | 47341767 | G | A,T |
| rs17145738 | 25176936 | 3569 | IL6 | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | TBL2 | 7 | 73568544 | C | T |
| rs17145738 | 25176936 | 51085 | MLXIPL | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | TBL2 | 7 | 73568544 | C | T |
| rs17145738 | 25176936 | 348 | APOE | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.014992773 | 2015 | TBL2 | 7 | 73568544 | C | T |
| rs17145738 | 25176936 | 1581 | CYP7A1 | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | TBL2 | 7 | 73568544 | C | T |
| rs1800795 | 25176936 | 348 | APOE | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.014992773 | 2015 | IL6;LOC541472 | 7 | 22727026 | C | G |
| rs1800795 | 25176936 | 1581 | CYP7A1 | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | IL6;LOC541472 | 7 | 22727026 | C | G |
| rs1800795 | 25176936 | 3569 | IL6 | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | IL6;LOC541472 | 7 | 22727026 | C | G |
| rs1800795 | 25176936 | 51085 | MLXIPL | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | IL6;LOC541472 | 7 | 22727026 | C | G |
| rs1801177 | NA | 4023 | LPL | umls:C0020474 | CLINVAR | NA | 0.256611493 | NA | LPL | 8 | 19948197 | G | A,C |
| rs2073658 | 16186412 | 7391 | USF1 | umls:C0020474 | BeFree | None of the USF1 SNPs genotyped, including two SNPs previously associated with familial combined hyperlipidemia (rs2073658 and rs3737787), showed evidence of association with type 2 diabetes. | 0.149223422 | 2005 | USF1;TSTD1 | 1 | 161040972 | C | T |
| rs268 | NA | 4023 | LPL | umls:C0020474 | CLINVAR | NA | 0.256611493 | NA | LPL | 8 | 19956018 | A | G |
| rs2808607 | 25176936 | 1581 | CYP7A1 | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | EGLN1 | 1 | 231405228 | G | A |
| rs2808607 | 25176936 | 51085 | MLXIPL | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | EGLN1 | 1 | 231405228 | G | A |
| rs2808607 | 25176936 | 348 | APOE | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.014992773 | 2015 | EGLN1 | 1 | 231405228 | G | A |
| rs2808607 | 25176936 | 3569 | IL6 | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | EGLN1 | 1 | 231405228 | G | A |
| rs3737787 | 16186412 | 7391 | USF1 | umls:C0020474 | BeFree | None of the USF1 SNPs genotyped, including two SNPs previously associated with familial combined hyperlipidemia (rs2073658 and rs3737787), showed evidence of association with type 2 diabetes. | 0.149223422 | 2005 | USF1;TSTD1 | 1 | 161039733 | G | A |
| rs3812316 | 25176936 | 1581 | CYP7A1 | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | MLXIPL | 7 | 73606007 | C | G |
| rs3812316 | 25176936 | 3569 | IL6 | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | MLXIPL | 7 | 73606007 | C | G |
| rs3812316 | 25176936 | 51085 | MLXIPL | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | MLXIPL | 7 | 73606007 | C | G |
| rs3812316 | 25176936 | 348 | APOE | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.014992773 | 2015 | MLXIPL | 7 | 73606007 | C | G |
| rs4961 | 11775124 | 118 | ADD1 | umls:C0020474 | BeFree | Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial combined hyperlipidemia. | 0.002638474 | 2001 | ADD1 | 4 | 2904980 | G | T |
| rs5742904 | 21382890 | 338 | APOB | umls:C1704417 | UNIPROT | Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. | 0.249771907 | 2011 | APOB | 2 | 21006288 | C | T |
| rs6078 | 10924721 | 3990 | LIPC | umls:C0020474 | BeFree | The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia. | 0.001357209 | 2000 | LIPC | 15 | 58541794 | G | A,T |
| rs730880052 | NA | 338 | APOB | umls:C1704417 | CLINVAR | NA | 0.249771907 | NA | APOB | 2 | 21006681 | G | T |
| rs7412 | 25176936 | 51085 | MLXIPL | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | APOE | 19 | 44908822 | C | T |
| rs7412 | 25176936 | 3569 | IL6 | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | APOE | 19 | 44908822 | C | T |
| rs7412 | 25176936 | 348 | APOE | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.014992773 | 2015 | APOE | 19 | 44908822 | C | T |
| rs7412 | 25176936 | 1581 | CYP7A1 | umls:C0020474 | BeFree | Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. | 0.000271442 | 2015 | APOE | 19 | 44908822 | C | T |
| rs7903146 | 17972059 | 338 | APOB | umls:C0020474 | BeFree | We investigated the effect of the TCF7L2 variants, rs7903146 and rs12255372, on FCHL and its component traits triacylglycerol (TG), total cholesterol (TC) and apolipoprotein B (ApoB) in 759 individuals from 55 Mexican families. | 0.013234638 | 2008 | TCF7L2 | 10 | 112998590 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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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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