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: C4016851
Disease: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY 		disease Finding 1 2 0.100 None 0 2
CUI: C4025631
Disease: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 27 0.770 None 1.000 23 27 1998 2019
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		disease Disease or Syndrome 2 13 0.700 None 1.000 14 13 1998 2017
CUI: C0919785
Disease: Decreased transferrin saturation
Decreased transferrin saturation 		phenotype Finding 2 0.100 None 0
CUI: C4025022
Disease: Decreased mitochondrial complex III activity in liver tissue
Decreased mitochondrial complex III activity in liver tissue 		phenotype Finding 2 0.100 None 0
CUI: C1839437
Disease: Chronic lactic acidosis
Chronic lactic acidosis 		phenotype Nutritional and Metabolic Diseases Finding 4 3 0.100 None 0
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2018 2018
CUI: C4022891
Disease: Elevated hepatic iron concentration
Elevated hepatic iron concentration 		phenotype Finding 5 0.100 None 0
CUI: C0238031
Disease: Breast Phyllodes Tumor
Breast Phyllodes Tumor 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C0751267
Disease: Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Infantile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 0
CUI: C0751268
Disease: Encephalopathy, Subacute Necrotizing, Juvenile
Encephalopathy, Subacute Necrotizing, Juvenile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 0
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		disease Disease or Syndrome 10 2 0.060 None 1.000 6 1 2003 2019
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.110 None 1.000 2 1 2007 2009
CUI: C0729665
Disease: Arteriovenous graft
Arteriovenous graft 		disease Acquired Abnormality 10 2 0.010 None 1.000 1 2018 2018
CUI: C0151900
Disease: Serum iron raised
Serum iron raised 		phenotype Nutritional and Metabolic Diseases Finding 10 0.100 None 0
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis 		phenotype Digestive System Diseases Finding 11 0.100 None 0
CUI: C3826157
Disease: Hypertension in children
Hypertension in children 		disease Disease or Syndrome 12 0.010 None 1.000 1 2012 2012
CUI: C0263491
Disease: Pili Torti
Pili Torti 		phenotype Skin and Connective Tissue Diseases Finding 12 0.100 None 0
CUI: C0277960
Disease: Dry hair
Dry hair 		phenotype Finding 12 2 0.100 None 0
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 10 0.750 definitive 1.000 12 10 1998 2017
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 2016 2016
CUI: C0021290
Disease: Neonatal disorder
Neonatal disorder 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 15 4 0.010 None 1.000 1 2008 2008
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 4 0.010 None 1.000 1 2015 2015