OPA1, OPA1 mitochondrial dynamin like GTPase, 4976

N. diseases: 236; N. variants: 68
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: 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 0.800 None 0.989 179 40 1997 2019
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 2 5 0.740 None 1.000 7 5 2011 2019
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		disease Disease or Syndrome 14 22 0.700 None 1.000 41 21 1999 2019
CUI: C1847730
Disease: GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding)
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding) 		phenotype Finding 2 0.500 None 1.000 2 1999 2016
CUI: C4225163
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) 		disease Disease or Syndrome 1 0.500 None 1.000 1 2016 2016
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.400 None 1.000 41 5 2001 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.330 None 1.000 3 2009 2011
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 11 0.300 None 1.000 2 2008 2012
CUI: C0600520
Disease: Left Ventricle Remodeling
Left Ventricle Remodeling 		phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 21 0.300 None 1.000 1 2011 2011
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2009 2009
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.300 None 1.000 1 2009 2009
CUI: C0600519
Disease: Ventricular Remodeling
Ventricular Remodeling 		phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 24 0.300 None 1.000 1 2011 2011
CUI: C1852267
Disease: OPTIC ATROPHY 1 AND DEAFNESS
OPTIC ATROPHY 1 AND DEAFNESS 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.220 None 1.000 3 2009 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.220 None 1.000 3 2009 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.210 None 1.000 2 2011 2019
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension 		disease Eye Diseases Disease or Syndrome 103 8 0.210 None 1.000 2 2011 2020
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.210 None 1.000 2 2000 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.210 None 1.000 2 2011 2014
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.200 None 1.000 1 2017 2017
CUI: C0035455
Disease: Rhinitis
Rhinitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 178 20 0.200 None 1.000 1 2017 2017
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.200 None 1.000 1 2014 2014
CUI: C0015696
Disease: Fatty Liver, Alcoholic
Fatty Liver, Alcoholic 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 94 6 0.200 None 1.000 1 2014 2014
CUI: C0872084
Disease: Sarcopenia
Sarcopenia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 164 10 0.200 None 1.000 1 2013 2013