rs121913499, IDH1

N. diseases: 51
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hemangioma
CUI: C0018916
Disease: Hemangioma
0.020 GeneticVariation BEFREE R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. 23485734 2013
Spindle cell hemangioma
CUI: C1304508
Disease: Spindle cell hemangioma
0.010 GeneticVariation BEFREE The R132C IDH1 mutation was identified by hydrolysis probes assay and confirmed by Sanger sequencing in 18 of 28 (64%) SCHs; of the 10 negative cases, 2 harbored a mutation in IDH2 (R172T and R172M) by Sanger sequencing. 23485734 2013
Neoplasms, Vascular Tissue
CUI: C0027668
Disease: Neoplasms, Vascular Tissue
0.010 GeneticVariation BEFREE R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. 23485734 2013
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
0.010 GeneticVariation BEFREE R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. 23485734 2013
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.710 GeneticVariation BEFREE Isocitrate dehydrogenase 1 R132C mutation occurs exclusively in microsatellite stable colorectal cancers with the CpG island methylator phenotype. 25496513 2014
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
0.010 GeneticVariation BEFREE On the other hand, IDH1 R132C inhibited expression of the ALPL gene in association with an increase in the repressive mark (H3K9me3), and subsequently inhibited the osteogenic properties of hMSCs and human osteosarcoma</span> cells. 26161668 2015
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
0.010 GeneticVariation BEFREE On the other hand, IDH1 R132C inhibited expression of the ALPL gene in association with an increase in the repressive mark (H3K9me3), and subsequently inhibited the osteogenic properties of hMSCs and human osteosarcoma</span> cells. 26161668 2015
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
0.010 GeneticVariation BEFREE On the other hand, IDH1 R132C inhibited expression of the ALPL gene in association with an increase in the repressive mark (H3K9me3), and subsequently inhibited the osteogenic properties of hMSCs and human osteosarcoma</span> cells. 26161668 2015
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016