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 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: C0338656
Disease: Impaired cognition
Impaired cognition 		0.140 Biomarker disease HPO
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
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.100 Biomarker phenotype HPO
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		0.100 Biomarker phenotype HPO
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.100 Biomarker phenotype HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.100 Biomarker group HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.100 Biomarker disease HPO
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		0.100 Biomarker disease HPO