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: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1
disease Disease or Syndrome 4 0.500 7 2007 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 limited 2 2014 2015
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic
phenotype Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 25 1 0.300 1 2013 2013
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality; Disease or Syndrome 45 10 0.300 limited 1 2007 2007
CUI: C0393911
Disease: Pure Autonomic Failure
Pure Autonomic Failure
disease Nervous System Diseases Disease or Syndrome 6 0.300 1 2013 2013
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
disease Finding 1 0.300 1 2013 2013
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 strong 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0270733
Disease: Striatonigral Degeneration
Striatonigral Degeneration
disease Nervous System Diseases Disease or Syndrome 1 0.300 0
CUI: C0393571
Disease: Multiple System Atrophy
Multiple System Atrophy
phenotype Nervous System Diseases Pathologic Function 19 5 0.300 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.300 strong 0
CUI: C0037019
Disease: Shy-Drager Syndrome
Shy-Drager Syndrome
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 74 27 0.200 0.900 14 7 2007 2018
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 325 55 0.200 1 2016 2016
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY
disease Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 5 0.140 1.000 8 5 2006 2016
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 181 8 0.120 1.000 2 2007 2014
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.110 < 0.001 1 1 2007 2007
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 489 44 0.110 1.000 1 1998 1998
CUI: C4476521
Disease: Renal glomerular fibrosis
Renal glomerular fibrosis
disease Disease or Syndrome 19 0.100 0
CUI: C0522198
Disease: Explosive speech
Explosive speech
phenotype Mental or Behavioral Dysfunction 12 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia
phenotype Pathologic Function 147 0.100 0
CUI: C0278184
Disease: Scanning speech
Scanning speech
phenotype Sign or Symptom 12 0.100 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 189 6 0.100 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability
disease Mental or Behavioral Dysfunction 102 3 0.100 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype Finding 77 4 0.100 0