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 Here we report a patient suffering from Mal de Meleda not associated with ARS mutations. 11872406 2002
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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 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 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: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group 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: 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: 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: 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: 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: 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: 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: 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