| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.020 | GeneticVariation | disease | BEFREE | Individuals homozygous for the A1AT Z-allele with environmental or genetic risk factors such as steatosis or heterozygosity for the HAMP non-sense mutation p.Arg59* presented with severe hepatic siderosis. | 26310624 | 2015 | ||||
|
0.020 | Biomarker | disease | BEFREE | These data indicate that the hepatic siderosis associated with PCT likely results from dysregulated HAMP. | 18809758 | 2008 | ||||
|
0.020 | GeneticVariation | disease | BEFREE | Most heterozygotes for URO-D mutations do not express a porphyric phenotype unless hepatic siderosis is present. | 11134514 | 2001 | ||||
|
0.020 | AlteredExpression | disease | BEFREE | Subnormal activity of hepatic uroporphyrinogen decarboxylase is responsible for the derangement of porphyrin biosynthesis in both sporadic and familial porphyria cutanea tarda, but the enzymatic defect is not clinically expressed in the absence of hepatic siderosis. | 3979748 | 1985 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Individuals homozygous for the A1AT Z-allele with environmental or genetic risk factors such as steatosis or heterozygosity for the HAMP non-sense mutation p.Arg59* presented with severe hepatic siderosis. | 26310624 | 2015 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Patients with HFE mutations had a significant higher risk (P < 0.05) for hepatic siderosis. | 20064187 | 2009 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | There was no correlation between the duodenal expression of DMT1 and Ireg1 and the degree of hepatic siderosis. | 14768003 | 2004 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | There was no correlation between the duodenal expression of DMT1 and Ireg1 and the degree of hepatic siderosis. | 14768003 | 2004 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | There was no correlation between the duodenal expression of DMT1 and Ireg1 and the degree of hepatic siderosis. | 14768003 | 2004 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | There was no correlation between the duodenal expression of DMT1 and Ireg1 and the degree of hepatic siderosis. | 14768003 | 2004 |