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: C0730309
Disease: Inherited optic neuropathy
Inherited optic neuropathy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.040 None 1.000 4 2000 2015
CUI: C4275164
Disease: Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy plus syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.030 None 1.000 3 2009 2019
CUI: C1735375
Disease: Progressive optic neuropathy
Progressive optic neuropathy 		disease Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
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: 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: C1859524
Disease: Adductor longus contractures
Adductor longus contractures 		phenotype Finding 1 0.100 None 0
CUI: C4025834
Disease: Abnormal amplitude of pattern reversal visual evoked potentials
Abnormal amplitude of pattern reversal visual evoked potentials 		phenotype Finding 1 0.100 None 0
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: 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: 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: C3888962
Disease: POLG mutation
POLG mutation 		disease Congenital Abnormality 3 7 0.010 None 1.000 1 2 2019 2019
CUI: C0029125
Disease: Optic Atrophies, Hereditary
Optic Atrophies, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 0.020 None 1.000 2 2014 2017
CUI: C0344299
Disease: Temporal pallor of optic disc
Temporal pallor of optic disc 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.110 None 1.000 1 2011 2011
CUI: C3554721
Disease: Morning glory anomaly
Morning glory anomaly 		disease Disease or Syndrome 5 0.100 None 0
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 38 0.010 None 1.000 1 2018 2018
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		disease Musculoskeletal Diseases Acquired Abnormality 6 2 0.100 None 0
CUI: C0003463
Disease: Anus Neoplasms
Anus Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2011 2011
CUI: C0015398
Disease: Eye Diseases, Hereditary
Eye Diseases, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 2016 2016
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 10 0.020 None 1.000 2 2000 2001
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 17 0.010 None 1.000 1 2016 2016
CUI: C1955603
Disease: Deaf-Blind Disorders
Deaf-Blind Disorders 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2008 2008
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		phenotype Finding 11 2 0.100 None 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 12 13 0.010 None 1.000 1 1 2014 2014
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: 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