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: C4748158
Disease: SPINOCEREBELLAR ATAXIA 48
SPINOCEREBELLAR ATAXIA 48 		disease Disease or Syndrome 1 0.020 None 1.000 2 2018 2020
CUI: C2609040
Disease: Cerebellar cognitive affective syndrome
Cerebellar cognitive affective syndrome 		disease Disease or Syndrome 2 0.020 None 1.000 2 2020 2020
CUI: C4023041
Disease: Parietal cortical atrophy
Parietal cortical atrophy 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4021754
Disease: Abnormality of the sella turcica
Abnormality of the sella turcica 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4022687
Disease: Abnormal motor evoked potentials
Abnormal motor evoked potentials 		phenotype Pathologic Function 4 0.100 None 0
CUI: C4014261
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 15 0.940 None 1.000 13 15 2003 2019
CUI: C3711380
Disease: Huntington Disease-Like Syndrome
Huntington Disease-Like Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2019 2019
CUI: C0949173
Disease: Delayed menarche
Delayed menarche 		disease Endocrine System Diseases Disease or Syndrome 6 1 0.100 None 0
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 8 8 0.020 None 1.000 2 2017 2018
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 10 6 0.010 None 1.000 1 2008 2008
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 5 0.100 None 0 1
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		phenotype Finding 14 0.100 None 0
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 15 3 0.100 None 0
CUI: C0022073
Disease: Iridocyclitis
Iridocyclitis 		disease Eye Diseases Disease or Syndrome 16 0.100 None 0
CUI: C0239882
Disease: Head tremor
Head tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 21 0.100 None 0
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		disease Nervous System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		phenotype Finding 22 5 0.100 None 0
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		disease Eye Diseases Disease or Syndrome 24 2 0.100 None 0
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		disease Disease or Syndrome 26 2 0.100 None 0
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2019 2019
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 30 9 0.100 None 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		phenotype Finding 30 3 0.100 None 0
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		phenotype Sign or Symptom 31 7 0.100 None 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 0
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 32 2 0.100 None 0