RIEG2, Rieger syndrome 2, 6012

N. diseases: 38; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.050 GeneticVariation disease BEFREE We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene. 16865292 2006
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.050 GeneticVariation disease BEFREE These findings support the notion that mutations in the ARS gene are pathogenic in mal de Meleda. 12535203 2003
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.050 GeneticVariation disease BEFREE Here we report a patient suffering from Mal de Meleda not associated with ARS mutations. 11872406 2002
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.050 GeneticVariation disease BEFREE Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently. 15909066 2005
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.050 GeneticVariation group BEFREE Among the MMPs analysed, MMP-7 serum levels in the ARS-ILD group were significantly higher compared with those in any of the other groups of PM/DM patients or in healthy controls. 30851107 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 GeneticVariation disease BEFREE These findings indicate that genetic variants in core ARSs genes may modify the individual susceptibility to breast cancer in Chinese population. 24510587 2015
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.020 GeneticVariation disease BEFREE Mutations in several aminoacyl-tRNA synthetase (ARS) genes have been implicated in inherited CMT disease. 27008886 2016
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.020 GeneticVariation disease BEFREE Based on these data, KARS becomes the fourth ARS gene associated with CMT disease, indicating that this family of enzymes is specifically critical for axon function. 20920668 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 GeneticVariation disease BEFREE These findings indicate that genetic variants in core ARSs genes may modify the individual susceptibility to breast cancer in Chinese population. 24510587 2015
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 GeneticVariation disease BEFREE Rgs 2 gene polymorphisms as modulators of anxiety in humans? 16736243 2006
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 GeneticVariation group BEFREE Rgs 2 gene polymorphisms as modulators of anxiety in humans? 16736243 2006
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.010 GeneticVariation disease BEFREE It has recently been reported that abnormalities in aminoacyl t-RNA synthetase (ARS) genes are linked to various unique leukodystrophies and leukoencephalopathies. 30715177 2019
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.010 GeneticVariation group BEFREE Mal de Meleda is an autosomal recessive inflammatory and keratotic palmoplantar skin disorder due to mutations in the ARS B gene, encoding for SLURP-1 (secreted mammalian Ly-6/uPAR-related protein 1). 14506129 2003
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		0.010 GeneticVariation disease BEFREE Haplotypic analysis of three Rieger syndrome regions in a large family with Axenfeld-Rieger syndrome excluded linkage to the 4q25 (PITX2), 6p25 (FOXC1), and 13q14 (RIEG2) regions. 11821690 2002
CUI: C0432330
Disease: Erythrokeratoderma
Erythrokeratoderma 		0.010 GeneticVariation disease BEFREE Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently. 15909066 2005
CUI: C3495488
Disease: Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome 		0.010 GeneticVariation disease BEFREE Haplotypic analysis of three Rieger syndrome regions in a large family with Axenfeld-Rieger syndrome excluded linkage to the 4q25 (PITX2), 6p25 (FOXC1), and 13q14 (RIEG2) regions. 11821690 2002
CUI: C4524073
Disease: Low anterior resection syndrome
Low anterior resection syndrome 		0.010 GeneticVariation disease BEFREE Up to 80% of patients after low anterior resection, experience (low) anterior resection syndrome (ARS/LARS). 29313107 2018
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.010 GeneticVariation disease BEFREE We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene. 16865292 2006
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 GeneticVariation group BEFREE Interestingly, ARS gene mutations have been implicated in tissue-specific human diseases, including inherited peripheral neuropathies. 23465884 2013
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.050 Biomarker disease BEFREE The results suggest that the ARS gene is likely to be responsible for MDM in the eight Tunisian families. 14674887 2003
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.050 Biomarker group BEFREE Although we reported the clinical characteristics of interstitial lung disease with anti-ARS antibodies (ARS-ILD) with and without PM/DM, the long-term prognosis of ARS-ILD remains undetermined. 28461123 2017
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.050 Biomarker group BEFREE Recently, a number of myositis-specific and -associated autoantibodies (MSAs/MAAs) have been identified and well characterized, and commercial assays for their detection have become available.<b>Areas covered</b>: There is accumulating evidence showing the utility of MSAs/MAAs in diagnosis of DM and in predicting clinical courses and outcomes in patients with DM as convenient biomarkers, i.e. an association of ILD with anti-ARS, anti-MDA5 and anti-SAE; and malignancy with anti-TIF1-γ, anti-NXP2, and anti-SAE in adults. 31779485 2020
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.050 Biomarker group BEFREE Propensity score-matched analysis demonstrated that first-line PSL + CNI therapy for patients with ARS-PM/DM-ILD significantly improved the PFS compared with PSL monotherapy, although there was no significant difference regarding longterm survival. 30647164 2019
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.050 Biomarker group BEFREE Patients with anti-aminoacyl-tRNA synthetase antibody (ARS-Ab) and anti-melanoma differentiation-associated gene 5 (MDA5)-Ab often have interstitial lung disease (ILD). 31631384 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE Interestingly, mRNA expression of steroid sulfatase STS, but not of arylsulfatases ARS-A and ARS-B, was significantly higher (p<0.0017) in non-malignant specimens than in tumor tissue samples, which might explain the higher resveratrol-3-O-sulfate concentrations in breast cancer specimens. 19747768 2010