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: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 12 0.010 None 1.000 1 2009 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 253 18 0.010 None 1.000 1 2016 2016
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 59 123 0.010 None 1.000 1 2009 2009
CUI: C0268238
Disease: Triglyceride storage disease with ichthyosis
Triglyceride storage disease with ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 8 0.010 None 1.000 1 2009 2009
CUI: C3278155
Disease: GLUTARIC ACIDEMIA IIB
GLUTARIC ACIDEMIA IIB 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2016 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2018 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2018 2018
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.010 None 1.000 1 2015 2015
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 36 4 0.100 None 0
CUI: C0546389
Disease: Hepatic periportal necrosis
Hepatic periportal necrosis 		disease Disease or Syndrome 3 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 37 0.100 None 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		phenotype Finding 11 0.100 None 0
CUI: C4025586
Disease: Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Electron transfer flavoprotein-ubiquinone oxidoreductase defect 		phenotype Finding 3 0.100 None 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.100 None 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		phenotype Finding 14 1 0.100 None 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype Finding 71 5 0.100 None 0
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria 		phenotype Finding 6 0.100 None 0
CUI: C1856405
Disease: Glutaric Aciduria IIC
Glutaric Aciduria IIC 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1856403
Disease: Glutaric Aciduria IIB
Glutaric Aciduria IIB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1856401
Disease: Glutaric Aciduria IIA
Glutaric Aciduria IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0