COASY, Coenzyme A synthase, 80347

N. diseases: 125; N. variants: 12
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 ×
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