COX1, cytochrome c oxidase subunit I, 4512

N. diseases: 421; N. variants: 89
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: C1857332
Disease: Deafness, Sensorineural, Autosomal-Mitochondrial Type
Deafness, Sensorineural, Autosomal-Mitochondrial Type 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 0.300 None 0
CUI: C4274324
Disease: Genetic recurrent myoglobinuria
Genetic recurrent myoglobinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Finding 3 0.300 None 0
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Pathologic Function 120 2 0.100 None 0
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.100 None 0
CUI: C0344232
Disease: Blurred vision
Blurred vision 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 28 2 0.100 None 0
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 91 6 0.100 None 0
CUI: C0018979
Disease: Hemianopsia
Hemianopsia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 41 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		phenotype Stomatognathic Diseases Finding 100 5 0.100 None 0
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes 		disease Mental Disorders Mental or Behavioral Dysfunction 31 6 0.100 None 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 0.100 None 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 12 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 49 5 0.100 None 0
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		phenotype Cardiovascular Diseases Pathologic Function 88 0.100 None 0
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.100 None 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 0
CUI: C0018794
Disease: Heart Block
Heart Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 58 7 0.100 None 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		phenotype Nervous System Diseases Finding 64 2 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 61 4 0.100 None 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		disease Neoplasms Neoplastic Process 38 0.100 None 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0