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: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		disease Nervous System Diseases Disease or Syndrome 1 11 0.710 None 1.000 8 11 1990 2018
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 74 0.350 None 1.000 5 1 2012 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.120 None 1.000 12 2 2005 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 3 2018 2018
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.110 None 1.000 1 2019 2019
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.110 None 1.000 1 2 2018 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2019 2019
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 0 2
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		phenotype Finding 11 2 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0 2
CUI: C1849143
Disease: Progressive truncal ataxia
Progressive truncal ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 2 0.100 None 0
CUI: C0542223
Disease: Loss of speech
Loss of speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 37 8 0.100 None 0 2
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 0 2
CUI: C1836851
Disease: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 		phenotype Finding 5 0.100 None 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype Finding 37 11 0.100 None 0 2
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0 2
CUI: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 4 2 0.100 None 0 2
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		phenotype Finding 6 4 0.100 None 0 2
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 23 8 0.100 None 0 2
CUI: C4477055
Disease: Limb myoclonus
Limb myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 1 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 127 8 0.100 None 0
CUI: C4025791
Disease: Photomyoclonic seizures
Photomyoclonic seizures 		disease Disease or Syndrome 1 0.100 None 0
CUI: C4024829
Disease: Nevus flammeus nuchae
Nevus flammeus nuchae 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality 2 3 0.100 None 0 2
CUI: C4023501
Disease: Focal myoclonic seizures
Focal myoclonic seizures 		disease Nervous System Diseases Disease or Syndrome 4 0.100 None 0