IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.130 AlteredExpression disease BEFREE In this study, the clinical impact of IDH1 expression on the progression and prognosis of breast cancer was evaluated using immunohistochemistry assay (IHC) of the corresponding tumor-adjacent normal, ductal carcinoma in situ (DCIS), and invasive ductal carcinoma (IDC) tissues from 309 patients with breast ductal carcinoma. 29661250 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.130 GeneticVariation disease BEFREE In addition, the patient's serum and urine displayed marked elevations in the concentration of 2-HG, significantly higher than that measured in six other patients with metastatic HR+ breast carcinoma whose tumors were found to harbor wild-type IDH1. 24760710 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.130 GeneticVariation disease BEFREE The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemia, but this has not been previously reported in breast carcinoma. 23111200 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.130 Biomarker disease HPO