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: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy 		phenotype Finding 27 4 0.100 None 0
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 30 20 0.100 None 1.000 10 1986 2015
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		disease Nervous System Diseases Congenital Abnormality 32 7 0.010 None 1.000 1 2018 2018
CUI: C1621895
Disease: Adrenal hyperplasia
Adrenal hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases Disease or Syndrome 33 0.010 None 1.000 1 1994 1994
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 34 4 0.050 None 1.000 5 1986 1999
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 2 0.040 None 1.000 4 2014 2016
CUI: C1696708
Disease: Prehypertension
Prehypertension 		disease Cardiovascular Diseases Disease or Syndrome 41 5 0.010 None 1.000 1 2017 2017
CUI: C0023601
Disease: Leydig Cell Tumor
Leydig Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 42 3 0.010 None 1.000 1 2006 2006
CUI: C3805043
Disease: Vascular cognitive impairment
Vascular cognitive impairment 		disease Disease or Syndrome 42 1 0.010 None 1.000 1 2018 2018
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 45 10 0.050 None 1.000 5 1 1995 2018
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		phenotype Finding 50 4 0.100 None 0
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		disease Congenital Abnormality 53 5 0.060 None 1.000 6 2 2007 2017
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype Finding 55 3 0.100 None 0
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 60 4 0.010 None 1.000 1 2015 2015
CUI: C0346302
Disease: Growth Hormone-Secreting Pituitary Adenoma
Growth Hormone-Secreting Pituitary Adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 60 5 0.010 None 1.000 1 2019 2019
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 65 1 0.010 None 1.000 1 2015 2015
CUI: C0029927
Disease: Ovarian Cysts
Ovarian Cysts 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 74 3 0.010 None 1.000 1 2017 2017
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.010 None 1.000 1 1994 1994
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 88 11 0.020 None 1.000 2 2017 2018
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.010 None 1.000 1 2015 2015
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 94 16 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease Disease or Syndrome 106 7 0.100 None 0