Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.320 Biomarker group BEFREE Profibrotic IHG-1 complexes with renal disease associated HSPA5 and TRAP1 in mitochondria. 28115289 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.320 Biomarker group BEFREE Induced in high glucose-1 (IHG-1) is a mitochondrial protein which we have recently reported to be associated with renal disease. 23567938 2013
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.320 Biomarker group CTD_human IHG-1 promotes mitochondrial biogenesis by stabilizing PGC-1α. 21784897 2011
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.300 Biomarker phenotype CTD_human In the unilateral ureteral obstruction model, we observed higher PGC-1α protein expression and IHG-1 levels with fibrosis. 21784897 2011
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.300 Biomarker disease CTD_human IHG-1 promotes mitochondrial biogenesis by stabilizing PGC-1α. 21784897 2011
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.100 GeneticVariation phenotype GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.040 AlteredExpression disease BEFREE IHG-1, HSPA5 and YBX1 all show increased expression in diabetic nephropathy, chronic kidney disease and in the Unilateral Ureteral Obstruction model of kidney fibrosis. 28115289 2017
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.040 AlteredExpression disease BEFREE We propose that in diabetic kidney disease increased IHG-1 expression protects cell viability and enhances the actions of TGF-β, leading to renal proximal tubule dedifferentiation, an important event in the pathogenesis of this devastating condition. 25008184 2014
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.040 Biomarker disease BEFREE This review focuses on describing how, through reductionist in vitro experimentation focusing on TGF-β1-related responses to hyperglycaemia, we have identified induced in high glucose-1 (IHG-1), induced in high glucose-2 (IHG-2/Grem1) and the lipoxin-inducible microRNA let-7c as potential targets for harnessing new therapeutic approaches to limit the bioactivity of TGF-β1 in diabetic kidney disease. 25085843 2014
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.040 AlteredExpression disease BEFREE Here, it is reported that the abundance of IHG-1 mRNA is nearly 10-fold higher in microdissected, tubule-rich renal biopsies from patients with diabetic nephropathy compared with control subjects. 18508967 2008
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.040 Biomarker disease LHGDN In summary, IHG-1, which increases in diabetic nephropathy, may enhance the actions of TGF-beta1 and contribute to the development of tubulointerstitial fibrosis. 18508967 2008
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.020 GeneticVariation disease BEFREE Previously, three siblings with early onset cerebellar dysfunction, developmental delay, pyramidal signs, and cerebellar atrophy on brain magnetic resonance imaging (MRI) were reported to carry homozygous V55A mutations in THG1L. 31168944 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.020 GeneticVariation disease BEFREE Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. 27307223 2016
CUI: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia 		0.010 GeneticVariation disease BEFREE Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. 31168944 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.010 Biomarker phenotype BEFREE Decreased Expression of TRPV4 Channels in HEI-OC1 Cells Induced by High Glucose Is Associated with Hearing Impairment. 30328329 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 GeneticVariation phenotype BEFREE A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. 27307223 2016
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.010 GeneticVariation phenotype BEFREE Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. 27307223 2016
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. 27307223 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation disease BEFREE A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. 27307223 2016
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		0.010 GeneticVariation phenotype BEFREE Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. 27307223 2016
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.010 AlteredExpression disease BEFREE We propose that in diabetic kidney disease increased IHG-1 expression protects cell viability and enhances the actions of TGF-β, leading to renal proximal tubule dedifferentiation, an important event in the pathogenesis of this devastating condition. 25008184 2014
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		0.010 AlteredExpression disease BEFREE IHG-1 is a transcript up-regulated in renal cells exposed to high glucose, in animal models of renal fibrosis and in human diabetic nephropathy. 23165112 2013
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction 		0.010 AlteredExpression phenotype BEFREE Supporting this possibility, IHG-1 mRNA and protein expression also increased with unilateral ureteral obstruction. 18508967 2008