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 Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 20 0.720 strong 1.000 3 1 2015 2017
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7
disease Disease or Syndrome 1 9 0.600 3 9 1993 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.500 1 2015 2015
CUI: C0009398
Disease: Color vision defect
Color vision defect
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 48 2 0.400 1 2015 2015
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 187 1 0.400 1 2015 2015
New Variant Creutzfeldt-Jakob Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 22 10 0.300 1 2013 2013
CUI: C0751042
Disease: Color Blindness, Inherited
Color Blindness, Inherited
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.300 1 2015 2015
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 88 39 0.300 1 2013 2013
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 9 0.300 1 2015 2015
CUI: C0036457
Disease: Scrapie
Scrapie
disease Animal Diseases; Nervous System Diseases Disease or Syndrome 6 0.300 1 2013 2013
CUI: C0242225
Disease: Color blindness
Color blindness
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 2 0.300 1 2015 2015
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 1 0.300 1 2015 2015
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 9 4 0.300 1 2015 2015
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 10 0.300 1 2015 2015
CUI: C0239777
Disease: Color Blindness, Green
Color Blindness, Green
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.300 1 2015 2015
CUI: C0751043
Disease: Monochromatopsia
Monochromatopsia
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.300 1 2015 2015
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 19 10 0.300 1 2013 2013
Pulmonary Fibrosis - from Asbestos Exposure
disease Occupational Diseases; Respiratory Tract Diseases Disease or Syndrome 14 0.300 1 2015 2015
CUI: C0003949
Disease: Asbestosis
Asbestosis
disease Occupational Diseases; Respiratory Tract Diseases Disease or Syndrome 28 2 0.300 1 2015 2015
CUI: C0155018
Disease: Color Blindness, Acquired
Color Blindness, Acquired
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Acquired Abnormality 3 0.300 1 2015 2015
Diabetes Mellitus, Non-Insulin-Dependent
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1671 1522 0.150 1.000 6 8 2006 2012
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease Disease or Syndrome 36 21 0.100 1 1 2017 2017
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
phenotype Laboratory or Test Result 154 573 0.100 1 7 2011 2011
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 257 440 0.100 1 1 2009 2009
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 154 573 0.100 1 7 2011 2011