| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.300 | Biomarker | group | CTD_human | Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. | 22683713 | 2012 | ||||
|
0.300 | Biomarker | group | CTD_human | Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. | 18252231 | 2008 | ||||
|
0.300 | Biomarker | group | CTD_human | Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle. | 17878938 | 2007 | ||||
|
0.300 | Biomarker | group | CTD_human | The -514 C->T hepatic lipase promoter region polymorphism and plasma lipids: a meta-analysis. | 15292318 | 2004 | ||||
|
0.300 | Biomarker | group | CTD_human | Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. | 11138003 | 2001 | ||||
|
0.300 | Biomarker | group | CTD_human | A hepatic lipase gene mutation associated with heritable lipolytic deficiency. | 1671786 | 1991 | ||||
|
0.300 | Biomarker | group | CTD_human | Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. | 1883393 | 1991 | ||||
|
0.300 | Biomarker | group | CTD_human | 2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. | 2332510 | 1990 | ||||
|
0.010 | GeneticVariation | group | BEFREE | It is an inborn error of lipid metabolism caused by biallelic mutations in the ALDH3A2 gene encoding the fatty aldehyde dehydrogenase that plays a pivotal role in metabolism of long-chain aliphatic aldehydes and alcohols. | 31273323 | 2019 | ||||
|
0.010 | GeneticVariation | group | BEFREE | Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. | 26883093 | 2016 |