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: 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
X-linked non progressive cerebellar ataxia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
Aldosterone-Producing Adrenal Cortex Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 2 6 0.100 None 0 3
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: 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
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: C1845029
Disease: Nonprogressive cerebellar ataxia
Nonprogressive cerebellar ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 9 1 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: C0234366
Disease: Ataxic
Ataxic
phenotype Sign or Symptom 15 4 0.010 None 1.000 1 2017 2017
CUI: C3713420
Disease: Familial Hyperaldosteronism
Familial Hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2016 2016
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 20 3 0.100 None 0
CUI: C0241237
Disease: Difficulty standing
Difficulty standing
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 21 14 0.100 None 0
CUI: C0155616
Disease: Secondary hypertension
Secondary hypertension
disease Cardiovascular Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2013 2013
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit
phenotype Finding 22 5 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: C3839460
Disease: Nonprogressive
Nonprogressive
phenotype Finding 24 0.100 None 0
CUI: C3178766
Disease: Nociceptive Pain
Nociceptive Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 25 0.010 None 1.000 1 2019 2019
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.010 None 1.000 1 1996 1996
CUI: C1321329
Disease: Slowed saccades
Slowed saccades
phenotype Finding 29 4 0.100 None 0
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 1 0.100 None 0
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic
disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2013 2013
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular
disease Neoplasms Neoplastic Process 37 0.300 None 1.000 1 2013 2013
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma
disease Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2013 2013
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia
disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 43 8 0.100 None 0 1
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic
disease Neoplasms Neoplastic Process 45 0.300 None 1.000 1 2013 2013