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: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 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: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype Finding 37 11 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: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 0 2
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 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: 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: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 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: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C0431447
Disease: Synophrys
Synophrys 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0 2
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0 2
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		phenotype Finding 11 2 0.100 None 0
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		phenotype Finding 6 4 0.100 None 0 2
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
CUI: C4023486
Disease: Focal EEG discharges with secondary generalization
Focal EEG discharges with secondary generalization 		phenotype Finding 2 0.100 None 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0 2
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype Finding 108 8 0.100 None 0