COASY, Coenzyme A synthase, 80347

N. diseases: 125; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.140 Biomarker disease BEFREE These results indicated that L-NBP might stimulate the proliferation, migration, and differentiation of hippocampal neural stem cells and reversed cognitive deficits in APP/PS1 mice. 29728920 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.140 Biomarker disease BEFREE Thus, L-NBP may be a promising therapeutic agent against DM-mediated cognitive dysfunction. 30506335 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.140 Biomarker disease BEFREE We found that L-NBP as a complementary therapy may have a positive therapeutic effect for improving cognitive dysfunction, the total effective rate, symptoms of PD, quality of life, and the related serum factors in the treatment of PDD. 31192971 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.140 Biomarker disease BEFREE In the current study, we examined the effects of L-NBP on learning and memory in a triple-transgenic AD mouse model (3xTg-AD) that develops both plaques and tangles with aging, as well as cognitive deficits. 20554868 2010
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 GeneticVariation disease BEFREE Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism. 10094437 1999
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 Biomarker disease BEFREE Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. 3003142 1986
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 AlteredExpression disease BEFREE Pseudohypoparathyroidism type Ia (PHP-Ia), an inherited multi-hormone resistance syndrome, is associated with deficient cellular activity of the alpha-subunit of the guanine nucleotide-binding protein (Gs alpha) that stimulates adenylyl cyclase. 1449489 1992
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 AlteredExpression disease BEFREE Most patients with AHO have decreased activity of the guanine nucleotide-binding protein (GS protein) that stimulates adenylyl cyclase. 7573148 1995
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 GeneticVariation disease BEFREE Postmortem molecular studies of GNAS, the gene for guanine nucleotide-binding protein, alpha-stimulating activity polypeptide (gene for PHP1A), identified a de novo heterozygous 3 bp in frame deletion predicting a deletion of the asparagine residue at position 377 (deltaN377). 19530187 2009
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 AlteredExpression disease BEFREE Classically, patients with PHP have the skeletal features of AHO, resistance to multiple hormones that work via cAMP such as parathyroid hormone and thyroid stimulating hormone, and deficient activity of Gs protein, the guanine nucleotide-binding protein that stimulates adenylate cyclase. 1621772 1992
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 AlteredExpression disease BEFREE About 70% of PHP-Ia patients, who show Albright hereditary osteodystrophy (AHO) associated with resistance toward multiple hormones (PTH/TSH/GHRH/gonadotropins), carry heterozygous mutations in the α-subunit of the stimulatory G protein (Gsα) exons 1-13, encoded by the guanine nucleotide binding-protein α-stimulating activity polypeptide 1 (GNAS), whereas the majority of PHP-Ib patients, who classically display hormone resistance limited to PTH and TSH with no AHO sign, have methylation defects in the imprinted GNAS cluster. 24423294 2014
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 GeneticVariation disease BEFREE Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. 2829196 1988
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 AlteredExpression disease BEFREE Most individuals with Albright's hereditary osteodystrophy (AHO) have deficient expression or function of G(s alpha), the alpha subunit of the guanine nucleotide binding protein that stimulates adenylyl cyclase, and are resistant to parathyroid hormone (PTH) and other hormones that act via stimulation of adenylyl cyclase. 9506735 1998
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 GeneticVariation disease BEFREE Hypothyroidism is a particular condition observed in pseudohypoparathyroidism (PHP), a rare disorder characterized by parathyroid (PTH) resistance leading to hypocalcemia and hyperphosphatemia associated with a GNAS (guanine nucleotide-binding protein α-subunit) mutation (PHP1A) or epimutation (PHP1B). 25591844 2015
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.060 Biomarker disease BEFREE Activating mutations of the Gsalpha gene, encoded by the guanine nucleotide-binding protein, alpha stimulating (GNAS) locus located on chromosome 20q13, underlie different clinical phenotypes characterized by skeletal lesions [fibrous dysplasia (FD) of bone], extraskeletal diseases (mainly endocrine hyperfunction and skin hyperpigmentation) and variable combinations thereof [the McCune-Albright syndrome (MAS)]. 17566083 2007
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.060 GeneticVariation disease BEFREE The main features of McCune-Albright are fibrous dysplasia of bone (FD), café-au-lait macules and precocious puberty; the disease is caused by activating mutations in the Guanine Nucleotide-binding protein, Alpha-stimulating activity polypeptide (GNAS) gene which are always somatic. 24012779 2014
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.060 GeneticVariation disease BEFREE It is well known that fibrous dysplasia (FD) is characterized by the presence of activating mutations involving G-nucleotide binding protein-α subunit (GNAS) involving codon R201 and rarely codon 227 with a mutation frequency between 45% and 93%. 26574629 2016
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.060 AlteredExpression disease BEFREE GNAS (guanine nucleotide-binding protein/α-subunit) mutations that induce the activation of G-protein α-subunit participate in the pathogenesis of fibrous dysplasia. 23370769 2013
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.060 GeneticVariation disease BEFREE Guanine nucleotide-binding protein/α-subunit (GNAS) mutations are involved in fibrous dysplasia (FD) pathogenesis. 28588314 2017
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.060 GeneticVariation disease BEFREE Fibrous dysplasia is a benign bone disease caused by a mutation in the gene for the stimulatory guanine nucleotide-binding protein Gs alpha, leading to high cyclic adenosine monophosphate levels. 18799196 2009
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.060 AlteredExpression disease BEFREE About 70% of PHP-Ia patients, who show Albright hereditary osteodystrophy (AHO) associated with resistance toward multiple hormones (PTH/TSH/GHRH/gonadotropins), carry heterozygous mutations in the α-subunit of the stimulatory G protein (Gsα) exons 1-13, encoded by the guanine nucleotide binding-protein α-stimulating activity polypeptide 1 (GNAS), whereas the majority of PHP-Ib patients, who classically display hormone resistance limited to PTH and TSH with no AHO sign, have methylation defects in the imprinted GNAS cluster. 24423294 2014
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.060 GeneticVariation disease BEFREE Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. 2829196 1988
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.060 AlteredExpression disease BEFREE Most individuals with Albright's hereditary osteodystrophy (AHO) have deficient expression or function of G(s alpha), the alpha subunit of the guanine nucleotide binding protein that stimulates adenylyl cyclase, and are resistant to parathyroid hormone (PTH) and other hormones that act via stimulation of adenylyl cyclase. 9506735 1998
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.060 AlteredExpression disease BEFREE Classically, patients with PHP have the skeletal features of AHO, resistance to multiple hormones that work via cAMP such as parathyroid hormone and thyroid stimulating hormone, and deficient activity of Gs protein, the guanine nucleotide-binding protein that stimulates adenylate cyclase. 1621772 1992
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.060 AlteredExpression disease BEFREE Most patients with AHO have decreased activity of the guanine nucleotide-binding protein (GS protein) that stimulates adenylyl cyclase. 7573148 1995