Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.360 | GeneticVariation | disease | BEFREE | Both leukemic cells and hemangioma had the same gene mutations: an insertion frameshift c.863_864insTCTG (p.W288 fs) in the nucleophosmin (NPM1) gene and a missense mutation c.392_395GTCG > CTCT (p.G131_R132 > AL) in the IDH1 gene. | 26508204 | 2015 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. | 23485734 | 2013 | ||||
|
0.360 | Biomarker | disease | BEFREE | Mutation analyses including Sanger sequencing of genes involving in enchondromatosis and the metabolic pathway of D-2-hydroxyglutarate including PTHR1, D2HGDH, HOT, and IDH1, as well as whole-exome sequencing for proband-parent trio analysis and paired blood versus hemangioma studies showed no pathogenic variants. | 29744569 | 2018 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). | 22057234 | 2011 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | A somatic mutation in IDH1 was detected in hemangioma and leukemic cells. | 28544751 | 2017 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | None of the known pathogenic mutations in the whole IDH1 or IDH2 genes was found in the patient's hemangioma sample. | 26123062 | 2015 | ||||
|
0.360 | Biomarker | disease | CTD_human | We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). | 22057234 | 2011 |