Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE As one of rate-limiting enzyme in the Krebs cycle, whether high expression of IDH3a affects glucose uptake in tumors has not been elucidated. 31355526 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 Biomarker disease BEFREE IDH3a targets AKT-GLUT1 pathway to affect glucose uptake and metabolites in lung adenocarcinoma. 31355526 2019
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 Biomarker disease BEFREE The most abundant proteins in POAG subjects are IGKC (13.56-fold), ITIH4 (4.1-fold), APOC3 (3.36-fold), IDH3A (3.11-fold), LOC105369216 (2.98-fold). 29847670 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 Biomarker group BEFREE IDH3A now joins the list of TCA cycle-related proteins, which includes ACO2, DLD, SLC25A19, FH, and succinate dehydrogenase subunits, all associated with neurological disorders. 28058510 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.010 GeneticVariation group BEFREE Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy. 28058510 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 Biomarker disease BEFREE These findings suggest that abnormality in the metabolism of isocitrate by IDH3A in the mitochondria plays a key role in the pathogenesis of BD, supporting the mitochondrial dysfunction hypothesis of BD. 26782057 2016
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.020 GeneticVariation disease BEFREE A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. 31012789 2019
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.020 GeneticVariation disease BEFREE IDH3A variants were identified as a novel cause of typical arRP in some individuals associated with macular pseudocoloboma. 28412069 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 Biomarker disease HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		0.100 Biomarker disease HPO
CUI: C0456909
Disease: Blindness
Blindness 		0.100 Biomarker phenotype HPO
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.100 Biomarker phenotype HPO