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: C1860972
Disease: GENIOSPASM 1
GENIOSPASM 1 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Finding 1 0.100 None 0
CUI: C4017260
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS 		disease Finding 1 1 0.100 None 0 1
CUI: C4025791
Disease: Photomyoclonic seizures
Photomyoclonic seizures 		disease Disease or Syndrome 1 0.100 None 0
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: C4023486
Disease: Focal EEG discharges with secondary generalization
Focal EEG discharges with secondary generalization 		phenotype Finding 2 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: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		disease Nervous System Diseases Disease or Syndrome 3 4 0.010 None 1.000 1 2014 2014
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: C4023501
Disease: Focal myoclonic seizures
Focal myoclonic seizures 		disease Nervous System Diseases Disease or Syndrome 4 0.100 None 0
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: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		phenotype Finding 6 4 0.100 None 0 2
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		phenotype Finding 11 2 0.100 None 0
CUI: C0393626
Disease: Opsoclonus-Myoclonus Syndrome
Opsoclonus-Myoclonus Syndrome 		disease Neoplasms; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2012 2012
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 1 2019 2019
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: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 23 8 0.100 None 0 2
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: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype Finding 37 11 0.100 None 0 2
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype Finding 38 19 0.100 None 0 2
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		disease Nervous System Diseases Disease or Syndrome 48 17 0.090 None 1.000 9 2 2007 2019
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: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 0.080 None 1.000 8 2011 2019
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		disease Musculoskeletal Diseases Anatomical Abnormality 61 6 0.100 None 0 2
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 68 13 0.100 None 0