PDE6H, phosphodiesterase 6H, 5149

N. diseases: 12; N. variants: 1
Source: CURATED ×
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: C0152200
Disease: Achromatopsia
Achromatopsia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 53 0.720 moderate 1.000 2 1 2012 2015
CUI: C1864900
Disease: Retinal Cone Dystrophy 3A
Retinal Cone Dystrophy 3A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 1 0.600 None 1.000 2 1 2012 2015
CUI: C0242225
Disease: Color blindness
Color blindness 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.310 None 1.000 1 2015 2015
CUI: C0751043
Disease: Monochromatopsia
Monochromatopsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2015 2015
CUI: C0751042
Disease: Color Blindness, Inherited
Color Blindness, Inherited 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2015 2015
CUI: C0239777
Disease: Color Blindness, Green
Color Blindness, Green 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2015 2015
CUI: C0155018
Disease: Color Blindness, Acquired
Color Blindness, Acquired 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2015 2015
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 4 0.300 None 1.000 1 2015 2015
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 5 0.300 None 1.000 1 2015 2015
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 1 0.300 None 1.000 1 2015 2015
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 212 0.300 None 1.000 1 2015 2015
CUI: C0009398
Disease: Color vision defect
Color vision defect 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2015 2015