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.
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
disease Disease or Syndrome 2 15 0.700 1.000 18 15 2013 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.430 strong 1.000 3 2014 2016
Neurodegeneration with brain iron accumulation (NBIA)
disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 21 3 0.400 1.000 12 2013 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.310 strong 1.000 1 2016 2016
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.300 1 2017 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.300 strong 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.130 1.000 3 2015 2016
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.130 1.000 3 2014 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 213 64 0.120 1.000 2 2014 2016
CUI: C0497327
Disease: Dementia
Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 435 107 0.110 1.000 1 2016 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 744 41 0.110 1.000 1 2016 2016
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 10 2 2010 2017
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Disease or Syndrome 37 13 0.100 1 1 2015 2015
Delayed speech and language development
phenotype Finding 219 39 0.100 1 1 2015 2015
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype Finding 81 12 0.100 1 1 2015 2015
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Congenital Abnormality 186 12 0.100 1 1 2015 2015
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 1 1 2015 2015
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 1 1 2015 2015
CUI: C1527347
Disease: Difficulty speaking
Difficulty speaking
phenotype Finding 72 0.100 0
CUI: C4280574
Disease: Problems speaking
Problems speaking
phenotype Finding 72 0.100 0
CUI: C1833297
Disease: Frontal release signs
Frontal release signs
phenotype Finding 3 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Finding 75 2 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C4020860
Disease: Supratentorial atrophy
Supratentorial atrophy
disease Disease or Syndrome 142 1 0.100 0