OPN1LW, opsin 1, long wave sensitive, 5956

N. diseases: 197; N. variants: 6
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: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
phenotype Finding 158 10 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 25 2 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C0009398
Disease: Color vision defect
Color vision defect
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 94 4 0.100 None 0
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: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0 1
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
disease Eye Diseases Disease or Syndrome 168 18 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
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: C2931753
Disease: Achromatopsia incomplete, X-linked
Achromatopsia incomplete, X-linked
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2004 2004
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: C3887937
Disease: CONE DYSTROPHY 5, X-LINKED
CONE DYSTROPHY 5, X-LINKED
disease Disease or Syndrome 2 1 0.200 None 1.000 1 2017 2017
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 9 1 0.110 None 1.000 1 1 2017 2017
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 322 2 0.010 None 1.000 1 2016 2016
CUI: C0598894
Disease: Monocytic leukemia
Monocytic leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 71 0.010 None 1.000 1 2001 2001
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2019 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2019 2019
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 2012 2012
CUI: C0457334
Disease: Acute monoblastic leukemia
Acute monoblastic leukemia
disease Neoplasms Neoplastic Process 37 5 0.010 None 1.000 1 2001 2001