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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease Congenital Abnormality 85 16 0.100 None 0 1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2010 2010
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.300 None 1.000 1 2009 2009
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
phenotype Pathological Conditions, Signs and Symptoms Finding 70 10 0.100 None 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
phenotype Finding 49 1 0.100 None 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
group Nervous System Diseases Finding 55 11 0.100 None 0 1
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils
disease Anatomical Abnormality 12 1 0.100 None 0 1
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
disease Finding 127 8 0.100 None 0
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 89 17 0.020 None 1.000 2 2009 2015
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.010 None 1.000 1 2015 2015
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0 2
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 50 58 0.100 None 0 1
CUI: C0234376
Disease: Action Tremor
Action Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.400 None 1.000 1 1 2009 2009
CUI: C0234357
Disease: Adiadochokinesis
Adiadochokinesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 0.300 None 1.000 1 2006 2006
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 762 24 0.040 None 1.000 4 1989 2014
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 37 0.050 None 1.000 5 1992 2012
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 92 16 0.050 None 1.000 5 1992 2012
CUI: C0272002
Disease: alpha^0^ Thalassemia
alpha^0^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 21 0.010 None 1.000 1 2007 2007
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.100 None 1.000 1 1 2007 2007
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 8 0.100 None 0 2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.010 None 1.000 1 2006 2006
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2018 2018
CUI: C0877430
Disease: Asthma chronic
Asthma chronic
disease Disease or Syndrome 36 0.010 None 1.000 1 2018 2018
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.450 None 1.000 6 1997 2019
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.300 None 1.000 1 2009 2009