OPTN, optineurin, 10133

N. diseases: 136; N. variants: 25
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: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease Eye Diseases Disease or Syndrome 383 222 0.800 None 0.914 58 11 1998 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.700 None 0.954 65 8 2010 2020
CUI: C3150692
Disease: AMYOTROPHIC LATERAL SCLEROSIS 12
AMYOTROPHIC LATERAL SCLEROSIS 12
disease Disease or Syndrome 1 4 0.600 None 1.000 2 4 2010 2017
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
disease Eye Diseases Disease or Syndrome 130 236 0.500 None 0.950 20 1 2002 2014
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 134 58 0.500 None 0.929 14 3 2010 2020
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding)
phenotype Finding 2 0.500 limited 1.000 1 2002 2002
Amyotrophic Lateral Sclerosis With Dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 0.300 None 1.000 2 2011 2014
CUI: C0271148
Disease: Secondary Open Angle Glaucoma
Secondary Open Angle Glaucoma
disease Eye Diseases Disease or Syndrome 13 0.300 None 1.000 2 2011 2014
Amyotrophic Lateral Sclerosis, Guam Form
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 None 1.000 2 2011 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.260 None 1.000 7 1 2013 2020
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.200 None 1.000 1 2013 2013
CUI: C0011406
Disease: Dental Pulp Exposure
Dental Pulp Exposure
disease Stomatognathic Diseases Disease or Syndrome 7 0.200 None 1.000 1 2005 2005
CUI: C0005694
Disease: Bladder neck obstruction
Bladder neck obstruction
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 67 0.200 None 1.000 1 2005 2005
CUI: C0033687
Disease: Proteinuria
Proteinuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.200 None 1.000 1 2014 2014
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
disease Nervous System Diseases Disease or Syndrome 186 52 0.140 None 1.000 5 3 2011 2018
CUI: C1368019
Disease: Paget Disease
Paget Disease
disease Neoplasms Neoplastic Process 66 21 0.110 None 1.000 3 2 2010 2020
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.110 None 1.000 1 2020 2020
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.100 None 0.938 48 5 2002 2019
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma
disease Eye Diseases Disease or Syndrome 103 56 0.100 None 0.958 24 4 2003 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 0.933 15 2010 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 1.000 12 1 2003 2019
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0043352
Disease: Xerostomia
Xerostomia
disease Stomatognathic Diseases Finding 56 1 0.100 None 0
CUI: C0023066
Disease: Laryngospasm
Laryngospasm
disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 48 0.100 None 0