RHOT1, ras homolog family member T1, 55288

N. diseases: 20; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease MGD
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.040 Biomarker disease BEFREE Here, we explore the clinical utility of Miro1 for detecting PD and for gauging potential treatments. 31564441 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.040 Biomarker disease BEFREE Finally, the emerging concept of rare genetic variants in candidates genes for PD, such as HSPA9, TRAP1 and RHOT1, complete the picture of the complex genetic architecture of PD that will direct future precision medicine approaches. 29372317 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.040 Biomarker disease BEFREE This novelty opens new doors in PD research toward RHOT1-based therapy and biomarker development. 28598236 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.040 Biomarker disease BEFREE Moreover, Miro1 turnover on damaged mitochondria is altered in Parkinson disease (PD) patient-derived fibroblasts containing a pathogenic mutation in the PARK2 gene (encoding Parkin). 24671417 2014
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 AlteredExpression disease BEFREE Moreover, both overexpression of Miro1 and ablation of PINK1 rescued the mitochondrial axonal transport deficit in ALS mutant SOD1-expressing cortical and motor neurons. 28973175 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 Biomarker disease BEFREE Our results suggest that ALS mutant VAPBP56S perturbs anterograde mitochondrial axonal transport by disrupting Ca(2+) homeostasis and effecting the Miro1/kinesin-1 interaction with tubulin. 22258555 2012
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.010 Biomarker group BEFREE Overall, these findings highlight the role of Miro1 in context of CS-induced mitochondrial dysfunction in lung epithelial cells that may contribute to the pathogenesis of chronic inflammatory lung diseases. 31593750 2019
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.010 AlteredExpression disease BEFREE Moreover, altered Miro1 protein levels have emerged as a shared feature of monogenic and sporadic Parkinson's disease (PD), but, so far, no disease-associated variants in <i>RHOT1</i> have been identified. 31303019 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 Biomarker disease BEFREE These findings provide new insights into epileptic disorders and suggest a potential neuroprotective value of Miro 1 in the treatment of epilepsy. 29365285 2018
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.010 AlteredExpression disease BEFREE In summary, our data demonstrates that ectopic expression of Miro 1 alleviated pilocarpine-induced SE and protected hippocampal neurons by inhibiting the intrinsic apoptotic pathway. 29365285 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 AlteredExpression group BEFREE The introduction of MMSC with overexpressed Miro1 in animals that had undergone an experimental stroke led to significantly improved recovery of neurological functions. 29562677 2018
CUI: C0238478
Disease: Transient erythroblastopenia of childhood
Transient erythroblastopenia of childhood 		0.010 AlteredExpression disease BEFREE Moreover, upregulation of RhoT1 level by decreased the degradation of RhoT1 could decrease the expression of SMAD-4 and increase the JAM-3 level in TECs treated with LPS, while downregulation of RhoT1 level with RNA interference had the opposite effects. 29725250 2018
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.010 AlteredExpression phenotype BEFREE Intraperitoneal injection of pilocarpine induced epileptic seizures in mice and significantly decreased Miro 1 expression in the hippocampus. 29365285 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 Biomarker disease BEFREE Inhibition of Miro1 disturbs mitophagy and pancreatic β-cell function interfering insulin release via IRS-Akt-Foxo1 in diabetes. 29207597 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 Biomarker group BEFREE Inhibition of Miro1 disturbs mitophagy and pancreatic β-cell function interfering insulin release via IRS-Akt-Foxo1 in diabetes. 29207597 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE Thus, these data suggest that Miro1 may be responsible for mitophagy deficiency and β-cell dysfunction in T2D and that strategies target Miro1 <i>in vivo</i> may provide a therapeutic target to enhance β-cell mitochondrial quality and insulin secretion to ameliorate complications associated with T2D. 29207597 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 Biomarker disease BEFREE β-cell specific ablation of Miro1 (Miro1f/f: Rip-cre mice, or (IKO) under high nutrient stress promotes the development of hyperglycemia. 29207597 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 Biomarker disease BEFREE We find Miro ubiquitination in dopaminergic neuroblastoma cells is independent of Miro1 phosphorylation at Ser-156 but is dependent on the recently identified Ser-65 residue within Parkin that is phosphorylated by PINK1. 24671417 2014
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 Biomarker disease BEFREE We find Miro ubiquitination in dopaminergic neuroblastoma cells is independent of Miro1 phosphorylation at Ser-156 but is dependent on the recently identified Ser-65 residue within Parkin that is phosphorylated by PINK1. 24671417 2014
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 Biomarker disease BEFREE Moreover, Miro1 turnover on damaged mitochondria is altered in Parkinson disease (PD) patient-derived fibroblasts containing a pathogenic mutation in the PARK2 gene (encoding Parkin). 24671417 2014
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 Biomarker disease BEFREE We find Miro ubiquitination in dopaminergic neuroblastoma cells is independent of Miro1 phosphorylation at Ser-156 but is dependent on the recently identified Ser-65 residue within Parkin that is phosphorylated by PINK1. 24671417 2014