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: 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: 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: C4551635
Disease: Deuteranopia
Deuteranopia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C4551767
Disease: Protanopia
Protanopia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 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: C0748351
Disease: respiratory compensation
respiratory compensation 		disease Disease or Syndrome 7 0.020 None 1.000 2 2017 2018
CUI: C0003081
Disease: Anisometropia
Anisometropia 		disease Eye Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2019 2019
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: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		disease Disease or Syndrome 8 13 0.010 None 1.000 1 2011 2011
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: C4086945
Disease: Ventilatory Threshold
Ventilatory Threshold 		phenotype Sign or Symptom 10 1 0.010 None 1.000 1 2017 2017
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 21 0.010 None 1.000 1 1 2019 2019
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 16 9 0.970 strong 1.000 11 4 1993 2019
CUI: C3887980
Disease: Protanomaly
Protanomaly 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 19 1 0.620 None 1.000 3 1 2002 2019
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		disease Congenital Abnormality 19 18 0.010 None 1.000 1 2010 2010
CUI: C0036211
Disease: Sarcoma 180
Sarcoma 180 		disease Neoplasms Neoplastic Process; Experimental Model of Disease 20 1 0.010 None 1.000 1 2019 2019
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 24 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: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 25 2 0.100 None 0
CUI: C4076240
Disease: Chronic kidney disease mineral and bone disorder
Chronic kidney disease mineral and bone disorder 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 26 0.010 None 1.000 1 2017 2017
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 29 15 0.010 None 1.000 1 2009 2009
CUI: C2825306
Disease: Treatment related leukaemia
Treatment related leukaemia 		disease Neoplasms Neoplastic Process 30 0.010 None 1.000 1 2004 2004
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 88 0.100 None 1.000 17 1999 2019
CUI: C0242225
Disease: Color blindness
Color blindness 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 1987 1987
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 35 12 0.080 None 1.000 8 1997 2016