OPN1MW, opsin 1, medium wave sensitive, 2652

N. diseases: 107; N. variants: 5
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: C0267926
Disease: Postoperative biliary stricture
Postoperative biliary stricture
disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0339530
Disease: Progressive cone-rod dystrophy
Progressive cone-rod dystrophy
disease Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome
disease Disease or Syndrome 25 2 0.010 None 1.000 1 2016 2016
CUI: C3278509
Disease: Spinal fusion
Spinal fusion
disease Anatomical Abnormality 67 2 0.010 None 1.000 1 2017 2017
CUI: C4275079
Disease: Posterior cortical atrophy syndrome
Posterior cortical atrophy syndrome
disease Disease or Syndrome 12 8 0.010 None 1.000 1 2011 2011
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
phenotype Finding 158 10 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C3887937
Disease: CONE DYSTROPHY 5, X-LINKED
CONE DYSTROPHY 5, X-LINKED
disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2018 2018
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2005 2005
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2005 2005
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 23 0.070 None 1.000 7 2018 2020
CUI: C1839612
Disease: MYOPIA 1, X-LINKED
MYOPIA 1, X-LINKED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C3159311
Disease: BORNHOLM EYE DISEASE
BORNHOLM EYE DISEASE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 1 0.300 None 1.000 1 2013 2013
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.300 None 1.000 1 2010 2010
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.100 None 0
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.010 None 1.000 1 2000 2000
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44 0.010 None 1.000 1 2000 2000
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 18 0.020 None 1.000 2 1991 1992
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.010 None 1.000 1 2020 2020
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 289 55 0.010 None 1.000 1 2019 2019
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 92 32 0.020 None 1.000 2 2002 2019