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: 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: 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: 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: 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: 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: 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: 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
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
0.010 Biomarker disease BEFREE The human iPSC cell line, ARS-FiPS4F1 (ESi063-A), derived from dermal fibroblast from the patient autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutations on the gene SACSIN, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. 30144656 2018
CUI: C3160821
Disease: Viral uveitis
Viral uveitis
0.010 Biomarker disease BEFREE Atypical features like focal strands with differential corneal involvement and onset of viral uveitis in unclassified ARS suggest a possible viral etiology during different periods of eye development. 27929720 2018
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: 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: 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: 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: 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
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: 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: 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: 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: 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: 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: 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