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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
phenotype Finding 98 4 0.100 None 0
CUI: C1857588
Disease: Amaurosis hypertrichosis
Amaurosis hypertrichosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
disease Eye Diseases Disease or Syndrome 168 18 0.100 None 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
disease Eye Diseases Disease or Syndrome 48 31 0.100 None 0 1
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 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: C0011334
Disease: Dental caries
Dental caries
disease Stomatognathic Diseases Disease or Syndrome 330 126 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: C4023551
Disease: Abnormality of dental color
Abnormality of dental color
phenotype Finding 11 0.100 None 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.010 None 1.000 1 2009 2009
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.110 None 1.000 1 2009 2009
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 20 14 0.010 None 1.000 1 2010 2010
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 26 63 0.110 None 1.000 1 2010 2010
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None 1.000 1 2012 2012
Cone rod dystrophy amelogenesis imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome 1 0.300 None 1.000 2 2009 2013
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 58 11 0.010 None 1.000 1 2013 2013
CUI: C1704330
Disease: Dental Diseases
Dental Diseases
group Stomatognathic Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2013 2013
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.010 None 1.000 1 2013 2013
CUI: C0747742
Disease: polyp benign
polyp benign
disease Disease or Syndrome 10 0.010 None 1.000 1 2014 2014
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2014 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2014 2014