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 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: 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: 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: 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
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: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.020 Biomarker disease BEFREE The significantly lower frequency of anti-ARS antibodies and significantly higher frequency of anti-MDA5 antibodies in the Chinese patients were observed in the classic DM subset (14.7 % [10/68] versus 46.4 % [26/56], respectively, P < 0.001, and 45.6 % [31/68] versus 5.4 % [3/56], respectively, P < 0.001) and CADM subset (8.0 % [2/25] versus 28.8 % [15/52], respectively, P = 0.04, and 88.0 % [22/25] versus 44.2 % [23/52], respectively, P = 0.0002), but not in the PM subset. 25903820 2015
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.020 Biomarker disease 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: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.020 Biomarker disease BEFREE The significantly lower frequency of anti-ARS antibodies and significantly higher frequency of anti-MDA5 antibodies in the Chinese patients were observed in the classic DM subset (14.7 % [10/68] versus 46.4 % [26/56], respectively, P < 0.001, and 45.6 % [31/68] versus 5.4 % [3/56], respectively, P < 0.001) and CADM subset (8.0 % [2/25] versus 28.8 % [15/52], respectively, P = 0.04, and 88.0 % [22/25] versus 44.2 % [23/52], respectively, P = 0.0002), but not in the PM subset. 25903820 2015
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.020 Biomarker disease 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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 Biomarker disease BEFREE Cases of ARS with overlapping features with other ASD, like aniridia (complete or incomplete absence of iris), iridocorneal endothelial (ICE) syndrome (beaten metal appearance of corneal endothelium), Peters anomaly, isolated trabeculodysgenesis (evidenced by Haab's striae, buphthalmos, and epiphora) in one or both eyes with other typical ARS features in the same or other eye were included and screened. 27929720 2018
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 GeneticVariation disease BEFREE Rgs 2 gene polymorphisms as modulators of anxiety in humans? 16736243 2006
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 AlteredExpression disease BEFREE We measured the expression of RGS-2,-3, and -4 in both transformed glia cells (human U373 MG astrocytoma cells) and in primary rat astrocyte cultures stimulated with adenosine agonists. 26263491 2015
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: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum 		0.010 Biomarker disease BEFREE The pharmacokinetics (PK) and ex vivo activity (pharmacodynamics [PD]) of two artemisinin combination therapies (ACTs) (artemisinin-piperaquine [ARN-PPQ] [Artequick<sup>®</sup>] and artesunate-amodiaquine [ARS-AQ] [Coarsucam<sup>™</sup>]) in healthy Vietnamese volunteers were compared following 3-day courses of the ACTs for the preselection of the drugs for falciparum malaria therapy. 29741150 2018
CUI: C0027121
Disease: Myositis
Myositis 		0.010 Biomarker disease 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: C0030312
Disease: Pancytopenia
Pancytopenia 		0.010 Biomarker disease BEFREE <b>Conclusions:</b> The presentation of bone marrow failure and multiorogan injury associated with ARS in the New Zealand White rabbit model is consistent with that described in the canine, swine, non-human primate, and in humans. 31526203 2019
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 Biomarker disease BEFREE The significantly lower frequency of anti-ARS antibodies and significantly higher frequency of anti-MDA5 antibodies in the Chinese patients were observed in the classic DM subset (14.7 % [10/68] versus 46.4 % [26/56], respectively, P < 0.001, and 45.6 % [31/68] versus 5.4 % [3/56], respectively, P < 0.001) and CADM subset (8.0 % [2/25] versus 28.8 % [15/52], respectively, P = 0.04, and 88.0 % [22/25] versus 44.2 % [23/52], respectively, P = 0.0002), but not in the PM subset. 25903820 2015
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		0.010 Biomarker disease BEFREE Cases of ARS with overlapping features with other ASD, like aniridia (complete or incomplete absence of iris), iridocorneal endothelial (ICE) syndrome (beaten metal appearance of corneal endothelium), Peters anomaly, isolated trabeculodysgenesis (evidenced by Haab's striae, buphthalmos, and epiphora) in one or both eyes with other typical ARS features in the same or other eye were included and screened. 27929720 2018
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