COX5A, cytochrome c oxidase subunit 5A, 9377

N. diseases: 171; N. variants: 3
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: C0342859
Disease: Harderoporphyria
Harderoporphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 4 0.010 None 1.000 1 1998 1998
CUI: C0678329
Disease: drug substitution (abuse)
drug substitution (abuse) 		disease Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2012 2012
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 44 0.010 None 1.000 1 2004 2004
CUI: C4025276
Disease: Congenital lactic acidosis
Congenital lactic acidosis 		disease Nutritional and Metabolic Diseases Congenital Abnormality 12 5 0.010 None 1.000 1 2011 2011
CUI: C0406305
Disease: Eosinophilic pustular folliculitis
Eosinophilic pustular folliculitis 		disease Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 15 0.010 None 1.000 1 2012 2012
CUI: C0597048
Disease: Neurogenic hypertension
Neurogenic hypertension 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 18 0.010 None 1.000 1 2019 2019
CUI: C0795692
Disease: Hyperlactatemia
Hyperlactatemia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 2007 2007
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 23 34 0.010 None 1.000 1 2010 2010
CUI: C0025048
Disease: Meconium Aspiration Syndrome
Meconium Aspiration Syndrome 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Respiratory Tract Diseases Disease or Syndrome 38 1 0.010 None 1.000 1 2003 2003
CUI: C0007370
Disease: Catalepsy
Catalepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 43 0.010 None 1.000 1 2018 2018
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 0.010 None 1.000 1 2016 2016
CUI: C0340293
Disease: Anterior myocardial infarction
Anterior myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 47 3 0.010 None 1.000 1 2017 2017
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 51 13 0.010 None < 0.001 1 2012 2012
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		phenotype Diagnostic Procedure 54 95 0.100 None 1.000 1 2 2018 2018
CUI: C0346989
Disease: Secondary malignant neoplasm of peritoneum
Secondary malignant neoplasm of peritoneum 		disease Neoplastic Process 58 2 0.010 None 1.000 1 2019 2019
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.010 None 1.000 1 2014 2014
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 65 44 0.350 None 1.000 6 1997 2017
CUI: C0917996
Disease: Cerebral Aneurysm
Cerebral Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 3 0.010 None 1.000 1 2011 2011
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.020 None 0.500 2 2008 2012
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 94 32 0.050 None 1.000 5 2013 2019
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.010 None 1.000 1 2010 2010
CUI: C0030201
Disease: Pain, Postoperative
Pain, Postoperative 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 102 14 0.010 None 1.000 1 2008 2008
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 117 45 0.010 None 1.000 1 2020 2020
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.010 None 1.000 1 2012 2012
CUI: C4721208
Disease: Metastatic castration-resistant prostate cancer
Metastatic castration-resistant prostate cancer 		disease Neoplastic Process 140 2 0.010 None 1.000 1 2019 2019