Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation CLINVAR Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients. 24606448

2014
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539

2012
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation CLINVAR Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients. 22397365

2012
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203

2012
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation CLINVAR IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders. 20946881

2010
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation CLINVAR Recurring mutations found by sequencing an acute myeloid leukemia genome. 19657110

2009
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C3553958
Disease: METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA 		0.610 CausalMutation CLINVAR

Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.500 GeneticVariation CLINVAR An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells. 23558169

2013
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.470 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.200 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.200 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.200 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.200 GeneticVariation CLINVAR Establishment of a novel monoclonal antibody SMab-1 specific for IDH1-R132S mutation. 21352804

2011
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.200 GeneticVariation CLINVAR A monoclonal antibody IMab-1 specifically recognizes IDH1R132H, the most common glioma-derived mutation. 19818334

2009
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.200 GeneticVariation CLINVAR Monoclonal antibody specific for IDH1 R132H mutation. 19798509

2009
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.120 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.110 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.110 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016