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: C0234366
Disease: Ataxic
Ataxic
phenotype Sign or Symptom 15 4 0.010 None 1.000 1 2017 2017
CUI: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia
disease Disease or Syndrome 8 2 0.010 None 1.000 1 1 2015 2015
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C1321329
Disease: Slowed saccades
Slowed saccades
phenotype Finding 29 4 0.100 None 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit
phenotype Finding 22 5 0.100 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype Finding 100 26 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 1
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C3839460
Disease: Nonprogressive
Nonprogressive
phenotype Finding 24 0.100 None 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex
disease Anatomical Abnormality 11 8 0.100 None 0 1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype Finding 160 246 0.100 None 0 1
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.310 None 1.000 2 2013 2017
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 1997 1997
CUI: C0155616
Disease: Secondary hypertension
Secondary hypertension
disease Cardiovascular Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2013 2013
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2020 2020
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 8 0.010 None 1.000 1 1999 1999
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 1983 1983
CUI: C0796205
Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1
SPINOCEREBELLAR ATAXIA, X-LINKED 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1 0.700 None 1.000 1 1 2012 2012
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 24 35 0.010 None 1.000 1 1985 1985
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 98 0.010 None 1.000 1 2017 2017