Source: ALL
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: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.900 strong 0.989 89 3 1982 2020
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 34 69 0.800 None 1.000 36 69 1981 2019
Cerebrooculofacioskeletal Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 7 58 0.740 None 1.000 15 51 1981 2017
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.650 strong 1.000 8 1982 2018
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 51 0.600 None 1.000 20 51 1981 2018
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
PREMATURE OVARIAN FAILURE 11
disease Disease or Syndrome 1 6 0.600 None 1.000 1 6 2015 2015
MACULAR DEGENERATION, AGE-RELATED, 5
disease Disease or Syndrome 1 5 0.600 limited 0 5
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.430 limited 1.000 3 8 2000 2009
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.420 None 1.000 4 1 2000 2016
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 80 42 0.400 None 1.000 18 1997 2016
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
disease Disease or Syndrome 1 5 0.400 None 1.000 2 5 1982 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.400 None 1.000 1 2008 2008
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.400 None 1.000 1 2008 2008
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.400 None 1.000 1 2000 2000
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 136 5 0.330 None 1.000 4 2002 2014
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.330 None 1.000 3 2007 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.330 None 1.000 3 1 2006 2012
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.330 None 1.000 3 4 2000 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.330 None 1.000 3 1 2006 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.320 None 1.000 2 2 2006 2017
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 7 1998 2016
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 0.300 None 1.000 2 2000 2008
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 35 0.300 None 1.000 2 2000 2008
CUI: C0033922
Disease: Psychomotor Disorders
Psychomotor Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2008 2008
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 24 0.300 None 1.000 1 2008 2008