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: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. 30089828 2018
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 GeneticVariation disease UNIPROT Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. 28489334 2017
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 Biomarker disease GENOMICS_ENGLAND Mutational analysis of COASY in an Italian patient with NBIA. 27021474 2016
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 Biomarker disease GENOMICS_ENGLAND Mutational analysis of COASY in an Italian patient with NBIA. 27021474 2016
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 GermlineCausalMutation disease ORPHANET Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 24360804 2014
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 GeneticVariation disease UNIPROT Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 24360804 2014
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 24360804 2014
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 Biomarker disease CTD_human
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 CausalMutation disease CLINVAR
CUI: C4748873
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
PONTOCEREBELLAR HYPOPLASIA, TYPE 12 		0.400 Biomarker disease GENOMICS_ENGLAND Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. 30089828 2018
CUI: C4748873
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
PONTOCEREBELLAR HYPOPLASIA, TYPE 12 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C4748873
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
PONTOCEREBELLAR HYPOPLASIA, TYPE 12 		0.400 CausalMutation disease CLINVAR
CUI: C4748873
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
PONTOCEREBELLAR HYPOPLASIA, TYPE 12 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C4517377
Disease: Coenzyme A synthase protein associated neurodegeneration
Coenzyme A synthase protein associated neurodegeneration 		0.300 Biomarker disease GENOMICS_ENGLAND Mutational analysis of COASY in an Italian patient with NBIA. 27021474 2016
CUI: C4517377
Disease: Coenzyme A synthase protein associated neurodegeneration
Coenzyme A synthase protein associated neurodegeneration 		0.300 Biomarker disease GENOMICS_ENGLAND Mutational analysis of COASY in an Italian patient with NBIA. 27021474 2016
CUI: C4517377
Disease: Coenzyme A synthase protein associated neurodegeneration
Coenzyme A synthase protein associated neurodegeneration 		0.300 Biomarker disease GENOMICS_ENGLAND Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 24360804 2014
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 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 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: C0338656
Disease: Impaired cognition
Impaired cognition 		0.140 Biomarker disease HPO
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: 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 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