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: C1960561
Disease: Hemidystonia
Hemidystonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1991 1991
CUI: C0598106
Disease: Encephalomyelopathy
Encephalomyelopathy 		disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1991 1991
CUI: C0751645
Disease: Human Transmissible Spongiform Encephalopathies, Inherited
Human Transmissible Spongiform Encephalopathies, Inherited 		disease Infections; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C1291512
Disease: Beta-Ureidopropionase Deficiency
Beta-Ureidopropionase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 11 0.010 None 1.000 1 2015 2015
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 1 0.010 None 1.000 1 2016 2016
CUI: C0342739
Disease: Trimethylaminuria
Trimethylaminuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 17 0.010 None 1.000 1 1997 1997
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
Lattice corneal dystrophy Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 4 4 0.010 None 1.000 1 2000 2000
CUI: C0005750
Disease: Blind Loop Syndrome
Blind Loop Syndrome 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2019 2019
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 29 0.010 None 1.000 1 2017 2017
CUI: C0339358
Disease: Infantile cataract
Infantile cataract 		disease Eye Diseases Congenital Abnormality 6 0.010 None 1.000 1 2019 2019
CUI: C0948786
Disease: Blanching
Blanching 		phenotype Sign or Symptom 7 0.010 None 1.000 1 2017 2017
CUI: C0342500
Disease: Adrenal mass
Adrenal mass 		disease Endocrine System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2000 2000
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2011 2011
CUI: C4554010
Disease: Isomerism (body)
Isomerism (body) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 9 0.010 None 1.000 1 2019 2019
CUI: C0027333
Disease: Nagana
Nagana 		disease Infections Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 3 0.010 None 1.000 1 2003 2003
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 65 0.010 None 1.000 1 1991 1991
CUI: C0268059
Disease: Neonatal hemochromatosis
Neonatal hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C0221333
Disease: Hypouricemia
Hypouricemia 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 8 0.010 None 1.000 1 2009 2009
CUI: C2732979
Disease: Acquired long QT syndrome
Acquired long QT syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 14 8 0.010 None 1.000 1 2013 2013
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile 		disease Disease or Syndrome 17 0.010 None 1.000 1 2005 2005
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 2005 2005
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 6 0.010 None 1.000 1 2005 2005
CUI: C0678128
Disease: Friend leukemia
Friend leukemia 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 1999 1999
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 0.010 None 1.000 1 2017 2017