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: C0280214
Disease: stage, nasopharyngeal cancer
stage, nasopharyngeal cancer 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C1850363
Disease: Niemann-Pick Disease, Nova Scotian Type
Niemann-Pick Disease, Nova Scotian Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.200 None 1.000 1 2017 2017
CUI: C2231324
Disease: Brucellosis, Pulmonary
Brucellosis, Pulmonary 		disease Infections Disease or Syndrome 1 0.300 None 1.000 1 2002 2002
CUI: C4017105
Disease: NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM
NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM 		disease Finding 1 2 0.100 None 0 2
CUI: C4017106
Disease: NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM 		disease Finding 1 2 0.100 None 0 2
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 1 0.810 moderate 1.000 4 1 1998 2017
CUI: C0240952
Disease: Dysarthria, Scanning
Dysarthria, Scanning 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.300 None 1.000 1 2011 2011
CUI: C0454597
Disease: Dysarthria, Flaccid
Dysarthria, Flaccid 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.300 None 1.000 1 2011 2011
CUI: C0454598
Disease: Dysarthria, Mixed
Dysarthria, Mixed 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 2 0.300 None 1.000 1 2011 2011
CUI: C1563666
Disease: Dysarthria, Guttural
Dysarthria, Guttural 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.300 None 1.000 1 2011 2011
CUI: C2713319
Disease: Arylsulfatase A Deficiency
Arylsulfatase A Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2018 2018
CUI: C1843373
Disease: Foam cells in visceral organs and CNS
Foam cells in visceral organs and CNS 		phenotype Finding 2 0.100 None 0
CUI: C0264542
Disease: Adhesion of pleura
Adhesion of pleura 		disease Respiratory Tract Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1881236
Disease: Interstitial Disease
Interstitial Disease 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C4025017
Disease: Fatal liver failure in infancy
Fatal liver failure in infancy 		phenotype Digestive System Diseases Finding 3 0.100 None 0
CUI: C0339693
Disease: Internal Ophthalmoplegia
Internal Ophthalmoplegia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 5 0.300 None 1.000 1 2011 2011
CUI: C0036489
Disease: Sea-Blue Histiocyte Syndrome
Sea-Blue Histiocyte Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 5 1 0.100 None 0
CUI: C1856560
Disease: Bone-marrow foam cells
Bone-marrow foam cells 		phenotype Finding 5 2 0.100 None 0
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 2001 2001
CUI: C0267990
Disease: Adult-onset obesity
Adult-onset obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C1285291
Disease: Fetal ascites
Fetal ascites 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 2 0.100 None 0
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 98 0.010 None 1.000 1 2006 2006
CUI: C0338473
Disease: Neuroaxonal Dystrophies
Neuroaxonal Dystrophies 		group Nervous System Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2004 2004
CUI: C0348489
Disease: Other sphingolipidosis
Other sphingolipidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 7 0.200 None 1.000 1 2017 2017
CUI: C1843366
Disease: NIEMANN-PICK DISEASE, TYPE C2
NIEMANN-PICK DISEASE, TYPE C2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 22 0.040 None 1.000 4 2000 2006