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: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		phenotype Finding 32 6 0.100 None 0
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		phenotype Finding 22 5 0.100 None 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 92 14 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.100 None 0 1
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		phenotype Pathologic Function 7 19 0.100 None 0
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype Finding 11 8 0.100 None 0
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		disease Disease or Syndrome 27 2 0.100 None 0
CUI: C4324277
Disease: Myokymia of eyelid
Myokymia of eyelid 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 1 0.100 None 0
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		phenotype Finding 34 3 0.100 None 0
CUI: C1867138
Disease: Upper limb postural tremor
Upper limb postural tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C1849146
Disease: Loss of Purkinje cells in the cerebellar vermis
Loss of Purkinje cells in the cerebellar vermis 		phenotype Finding 5 0.100 None 0
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 28 3 0.100 None 0
CUI: C1853394
Disease: Gaze-evoked horizontal nystagmus
Gaze-evoked horizontal nystagmus 		phenotype Eye Diseases; Nervous System Diseases Finding 10 1 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C1854372
Disease: Impaired vibration sensation at ankles
Impaired vibration sensation at ankles 		phenotype Finding 9 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C1857055
Disease: Anteverted ears
Anteverted ears 		phenotype Finding 7 0.100 None 0
CUI: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5 		phenotype Finding 34 0.100 None 0