OPN1SW, opsin 1, short wave sensitive, 611

N. diseases: 164; 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: C4023317
Disease: Dichromacy
Dichromacy 		disease Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C4024712
Disease: Abnormal light-adapted electroretinogram
Abnormal light-adapted electroretinogram 		phenotype Finding 1 0.100 None 0
CUI: C0233701
Disease: Fear of heights
Fear of heights 		disease Mental Disorders Mental or Behavioral Dysfunction 3 0.010 None 1.000 1 2019 2019
CUI: C0236801
Disease: Phobia, Specific
Phobia, Specific 		disease Mental Disorders Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2017 2017
CUI: C0522187
Disease: Tocophobia
Tocophobia 		phenotype Mental Disorders Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2019 2019
CUI: C0751250
Disease: Psychophysiological Insomnia
Psychophysiological Insomnia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0558116
Disease: Distorted body image
Distorted body image 		disease Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2018 2018
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C0233697
Disease: Obsessions
Obsessions 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 8 5 0.010 None 1.000 1 2018 2018
CUI: C4289946
Disease: B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative
B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative 		disease Neoplastic Process 8 0.010 None 1.000 1 2014 2014
CUI: C0001546
Disease: Adjustment Disorders
Adjustment Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 9 4 0.020 None 1.000 2 2018 2019
CUI: C0268263
Disease: Multiple Sulfatase Deficiency Disease
Multiple Sulfatase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 26 0.010 None 1.000 1 2018 2018
CUI: C0686346
Disease: Gender Dysphoria
Gender Dysphoria 		phenotype Mental Disorders Mental or Behavioral Dysfunction 13 2 0.010 None 1.000 1 2019 2019
CUI: C2362914
Disease: clinical depression
clinical depression 		disease Mental Disorders Mental or Behavioral Dysfunction 14 0.020 None 1.000 2 2017 2018
CUI: C3840214
Disease: High-functioning autism
High-functioning autism 		disease Mental Disorders Mental or Behavioral Dysfunction 15 5 0.010 None 1.000 1 2017 2017
CUI: C0233705
Disease: Cancerophobia
Cancerophobia 		disease Mental Disorders Mental or Behavioral Dysfunction 17 0.010 None 1.000 1 2020 2020
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		phenotype Sign or Symptom 17 3 0.010 None 1.000 1 2017 2017
CUI: C0221480
Disease: Recurrent depression
Recurrent depression 		disease Mental Disorders Mental or Behavioral Dysfunction 19 12 0.010 None 1.000 1 2017 2017
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		disease Disease or Syndrome 19 1 0.100 None 0
CUI: C1839735
Disease: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2019 2019
CUI: C4324336
Disease: Hyperleukocytosis
Hyperleukocytosis 		disease Disease or Syndrome 21 0.010 None 1.000 1 2015 2015
CUI: C0001726
Disease: Affective Symptoms
Affective Symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 23 10 0.010 None 1.000 1 2020 2020
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 25 12 0.740 None 0.667 6 4 1992 2018
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 26 63 0.010 None 1.000 1 2015 2015
CUI: C4046029
Disease: Mental Disorders, Severe
Mental Disorders, Severe 		disease Mental Disorders Mental or Behavioral Dysfunction 26 1 0.010 None 1.000 1 2019 2019