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 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 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 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 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 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 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
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: 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: 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 HPO
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: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO