| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | GeneticVariation | disease | BEFREE | Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by autosomal dominant germline mutations in the fumarate hydratase (FH) gene and is characterized by cutaneous leiomyomas, uterine leiomyomas and aggressive renal malignancies. | 29423582 | 2018 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | We describe the case of a 53-year-old woman who presented with multiple CL with a novel heterozygous canonical splice site mutation in intron 9 of the fumarate hydratase (FH) gene IVS 9-1 G>C (NM_000143.3:c 1391-1 G>C) that was not detected on initial screening of a mutation hotspot but was picked up on sequencing the remaining exons and splice site junctions. | 28266706 | 2017 | ||||
|
0.180 | AlteredExpression | disease | BEFREE | Loss of FH immunohistochemical expression in cutaneous leiomyomas is a sensitive and specific marker for detection of HLRCC, thus suggesting a role for prospective FH IHC in patients with these tumors to screen for HLRCC. | 28288038 | 2017 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | The aim of this study was to assess the effectiveness of morphologic features and IHC at predicting FH gene mutations in cutaneous leiomyomas. | 26945337 | 2016 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. | 16029320 | 2005 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | We screened for germline mutations in FH in 35 families with cutaneous leiomyomas. | 12772087 | 2003 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Loss of function mutations in the fumarate hydratase (fumarase, FH) gene were recently identified as the cause for dominantly inherited uterine and cutaneous leiomyomas and renal cell cancer. | 12183404 | 2002 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. | 11283798 | 2001 | ||||
|
0.180 | GeneticVariation | disease | CLINVAR | |||||||
|
0.180 | Biomarker | disease | HPO |