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: C3495589
Disease: Jalili syndrome
Jalili syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome 1 3 0.560 1.000 6 3 2009 2017
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 43 14 0.440 strong 1.000 4 2009 2015
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 6 0.400 3 6 1989 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.300 0
Cone rod dystrophy amelogenesis imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome 1 0.300 0
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 20 0.110 1.000 1 2011 2011
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 52 12 0.110 1.000 1 2009 2009
CUI: C1857618
Disease: Achromatopsia 2
Achromatopsia 2
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 35 0.100 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 166 0.100 0
Retinal pigment epithelial abnormality
phenotype Finding 166 2 0.100 0
CUI: C4280623
Disease: Rotting teeth
Rotting teeth
phenotype Finding 94 0.100 0
CUI: C3552853
Disease: Color vision defect, severe
Color vision defect, severe
phenotype Finding 41 0.100 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 250 0.100 0
CUI: C4020885
Disease: Difficulties with night vision
Difficulties with night vision
phenotype Finding 125 0.100 0
CUI: C4020887
Disease: Photodysphoria
Photodysphoria
phenotype Sign or Symptom 180 0.100 0
CUI: C4023551
Disease: Abnormality of dental color
Abnormality of dental color
phenotype Finding 5 0.100 0
CUI: C4229565
Disease: Loss in color vision
Loss in color vision
phenotype Finding 41 0.100 0
CUI: C0730290
Disease: Cone dystrophy
Cone dystrophy
disease Disease or Syndrome 47 13 0.100 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
phenotype Finding 62 0.100 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 499 33 0.100 0
CUI: C0028077
Disease: Night Blindness
Night Blindness
disease Eye Diseases Disease or Syndrome 131 18 0.100 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 362 15 0.100 0
CUI: C0042798
Disease: Low Vision
Low Vision
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 260 12 0.100 0
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 187 1 0.100 0
CUI: C0011334
Disease: Dental caries
Dental caries
disease Stomatognathic Diseases Disease or Syndrome 169 25 0.100 0