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: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 50 11 0.780 1.000 16 11 1995 2018
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 71 7 0.600 0.964 34 1996 2016
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 21 30 0.530 0.667 5 2004 2016
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
disease Skin and Connective Tissue Diseases Disease or Syndrome 16 1 0.510 1.000 1 2009 2009
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.500 2 2012 2012
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2
disease Disease or Syndrome 1 1 0.400 1 1 2009 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.400 strong 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.300 strong 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.300 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 strong 1 1995 1995
CUI: C0020241
Disease: Hydroa Vacciniforme
Hydroa Vacciniforme
disease Skin and Connective Tissue Diseases Disease or Syndrome 5 0.300 limited 0
CUI: C1744601
Disease: Abnormal heart beat
Abnormal heart beat
phenotype Sign or Symptom 99 0.100 0
CUI: C1832603
Disease: ECG abnormality
ECG abnormality
phenotype Finding 99 0.100 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue
phenotype Finding 4 0.100 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 95 2 0.100 0
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis
phenotype Acquired Abnormality 156 0.100 0
CUI: C1839604
Disease: Renal failure in adulthood
Renal failure in adulthood
phenotype Finding 95 2 0.100 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
phenotype Finding 101 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 338 0.100 0
CUI: C0497327
Disease: Dementia
Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 435 107 0.100 0
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal
phenotype Finding 102 0.100 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
phenotype Finding 28 0.100 0