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: 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: 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: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 GeneticVariation group 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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 Biomarker group BEFREE Recent evidence suggests that ARS genes may participate in a wide array of cellular processes, and may contribute to the pathology of autoimmune disease, cancer, and other diseases. 27612429 2016
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: 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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 Biomarker group BEFREE Is RGS-2 a new drug development target in cardiovascular disease? 15268629 2004
CUI: C1510420
Disease: Cavitation
Cavitation 		0.010 Biomarker disease BEFREE The effects on cavitation and decomposition of ARS by the parameters that affect degradation, including solution temperature, initial pH, and electrolytes, were examined. 29958164 2018
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: C4086152
Disease: Childhood Astrocytoma
Childhood 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: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.010 Biomarker group BEFREE As our previous studies revealed that ARS-ILD without PM/DM was similar to CTD-associated ILD, and that ARS-ILD with PM/DM was radiologically suggestive of a nonspecific interstitial pneumonia (NSIP) pathological pattern, we hypothesized that the prognosis of ARS-ILD might be distinct from that of idiopathic pulmonary fibrosis (IPF) without anti-ARS. 28461123 2017
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: 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: 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: 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 Biomarker group BEFREE It has been suggested that RGS-2 is a new drug development target for hypertension. 15268629 2004
CUI: C1840283
Disease: ICHTHYOSIS--CHEEK--EYEBROW SYNDROME
ICHTHYOSIS--CHEEK--EYEBROW SYNDROME 		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: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 Biomarker disease BEFREE As our previous studies revealed that ARS-ILD without PM/DM was similar to CTD-associated ILD, and that ARS-ILD with PM/DM was radiologically suggestive of a nonspecific interstitial pneumonia (NSIP) pathological pattern, we hypothesized that the prognosis of ARS-ILD might be distinct from that of idiopathic pulmonary fibrosis (IPF) without anti-ARS. 28461123 2017
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