COASY, Coenzyme A synthase, 80347

N. diseases: 125; N. variants: 12
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		disease Disease or Syndrome 1 3 0.700 None 1.000 4 3 2014 2018
CUI: C4748873
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
PONTOCEREBELLAR HYPOPLASIA, TYPE 12 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2018 2018
CUI: C0342346
Disease: Pseudohypoparathyroidism and pseudopseudohypoparathyroidism
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1986 1986
CUI: C3668943
Disease: Fatty Acid Hydroxylase-Associated Neurodegeneration
Fatty Acid Hydroxylase-Associated Neurodegeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C4025705
Disease: Eye of the tiger anomaly of globus pallidus
Eye of the tiger anomaly of globus pallidus 		phenotype Finding 2 0.100 None 0
CUI: C4517377
Disease: Coenzyme A synthase protein associated neurodegeneration
Coenzyme A synthase protein associated neurodegeneration 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 0.300 None 1.000 2 2014 2016
CUI: C3496228
Disease: Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 12 0.010 None 1.000 1 2018 2018
CUI: C0231617
Disease: Catch - Finding of sensory dimension of pain
Catch - Finding of sensory dimension of pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2019 2019
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		disease Endocrine System Diseases Disease or Syndrome 8 8 0.010 None < 0.001 1 2017 2017
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 9 28 0.010 None 1.000 1 2017 2017
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia 		phenotype Finding 9 4 0.100 None 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		phenotype Anatomical Abnormality 9 1 0.100 None 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C2930995
Disease: Dyschromatosis universalis hereditaria
Dyschromatosis universalis hereditaria 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2017 2017
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 2014 2014
CUI: C4725092
Disease: Advanced Uveal Melanoma
Advanced Uveal Melanoma 		disease Neoplastic Process 13 0.010 None 1.000 1 2011 2011
CUI: C2242577
Disease: Oromandibular dystonia
Oromandibular dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.100 None 0
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 14 11 0.030 None 1.000 3 1998 2019
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia 		disease Musculoskeletal Diseases Congenital Abnormality 18 2 0.010 None 1.000 1 1 2017 2017
CUI: C0016063
Disease: Osteitis Fibrosa Disseminata
Osteitis Fibrosa Disseminata 		disease Musculoskeletal Diseases Disease or Syndrome 19 0.010 None 1.000 1 2014 2014
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 150 0.010 None 1.000 1 2016 2016
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 20 14 0.010 None 1.000 1 2008 2008
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 22 0.060 None 1.000 6 1986 2014
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 26 63 0.010 None 1.000 1 2008 2008
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		disease Disease or Syndrome 27 10 0.010 None 1.000 1 2018 2018