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: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype Anatomical Abnormality 122 14 0.100 None 0
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.200 None 1.000 1 1995 1995
CUI: C0266574
Disease: Ablepharon
Ablepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 20 1 0.010 None 1.000 1 2017 2017
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 40 13 0.010 None 1.000 1 2018 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 0.974 39 2004 2020
CUI: C4225337
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		disease Disease or Syndrome 1 9 0.700 strong 1.000 10 9 1988 2018
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 247 76 0.070 None 1.000 7 2016 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.330 None 1.000 4 1 2013 2020
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.040 None 1.000 4 2008 2017
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.130 None 1.000 3 2016 2019
CUI: C0235394
Disease: Wasting
Wasting 		disease Nutritional and Metabolic Diseases Disease or Syndrome 15 0.030 None 1.000 3 2005 2009
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 126 72 0.020 None 1.000 2 2018 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.120 None 1.000 2 2016 2020
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 138 21 0.020 None 1.000 2 2007 2017
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 43 9 0.100 None 1.000 1 1 2016 2016
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.010 None 1.000 1 2017 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 1999 1999
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 71 9 0.010 None 1.000 1 2016 2016
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.110 None 1.000 1 1 2020 2020
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.010 None 1.000 1 2020 2020