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: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 54 42 0.060 None 1.000 6 1998 2017
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 2 2 2016 2019
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 2 2 2016 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2017 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2019 2019
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 430 96 0.010 None 1.000 1 2017 2017
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 2013 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 95 187 0.010 None 1.000 1 2017 2017
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2019 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2019 2019
CUI: C0156312
Disease: Atrophy of testis
Atrophy of testis
disease Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 0.010 None 1.000 1 1998 1998
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2013 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.010 None 1.000 1 2017 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 1.000 1 1 2019 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2019 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2013 2013
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1845167
Disease: Dent Disease 2
Dent Disease 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 7 0.100 None 1.000 1 1 2016 2016