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: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.020 None 1.000 2 2005 2019
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.010 None 1.000 1 2019 2019
CUI: C0345996
Disease: Milium Cyst
Milium Cyst
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Anatomical Abnormality 20 0.010 None 1.000 1 2019 2019
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.010 None 1.000 1 2011 2011
CUI: C0265482
Disease: Ring Chromosome 20 Syndrome
Ring Chromosome 20 Syndrome
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 3 0.010 None 1.000 1 2008 2008
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 229 12 0.010 None 1.000 1 2011 2011
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
disease Nervous System Diseases Disease or Syndrome 17 8 0.500 None 1.000 43 4 1995 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 1.000 29 1999 2019
CUI: C0085541
Disease: Epilepsy, Frontal Lobe
Epilepsy, Frontal Lobe
disease Nervous System Diseases Disease or Syndrome 10 0.400 None 1.000 14 1998 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.100 None 1.000 13 1994 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.070 None 1.000 7 2 2010 2019
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 13 0.070 None 1.000 7 1994 2006
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 74 46 0.050 None 1.000 5 1996 2015
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.040 None 0.750 4 2005 2019
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 93 36 0.040 None 0.750 4 1996 2007
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 94 24 0.040 None 1.000 4 1997 2009
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.420 None 1.000 4 2000 2005
Epilepsy, Nocturnal Frontal Lobe, Type 1
disease Nervous System Diseases Disease or Syndrome 1 2 0.700 None 1.000 4 2 1995 2003
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
disease Nervous System Diseases Disease or Syndrome 73 23 0.030 None 1.000 3 1998 2016
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.030 None 1.000 3 2013 2020
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.030 None 1.000 3 2003 2017
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy
disease Disease or Syndrome 30 3 0.030 None 1.000 3 1994 1998
CUI: C0391958
Disease: Familial Epilepsies
Familial Epilepsies
disease Nervous System Diseases Disease or Syndrome 16 2 0.030 None 1.000 3 2007 2018
CUI: C0393671
Disease: Frontal Epilepsy, Benign, Childhood
Frontal Epilepsy, Benign, Childhood
disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 3 2003 2007
CUI: C0393683
Disease: Epilepsy, Supplementary Motor
Epilepsy, Supplementary Motor
disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 3 2003 2007