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: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 371 46 0.020 1.000 2 1999 2016
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 223 4 0.010 1.000 1 1989 1989
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia
disease Neoplasms Neoplastic Process 80 0.010 1.000 1 1985 1985
CUI: C0751262
Disease: Adult Learning Disorders
Adult Learning Disorders
group Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 29 0.300 2 1999 2000
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 32 28 0.010 1.000 1 1996 1996
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 423 323 0.360 0.600 6 1994 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.050 0.800 5 1998 2012
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 23 1 0.010 1.000 1 2000 2000
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1059 141 0.010 < 0.001 1 2011 2011
Autoimmune polyendocrinopathy syndrome, type 1
disease Endocrine System Diseases; Immune System Diseases Disease or Syndrome 11 1 0.010 1.000 1 2013 2013
Autosomal Dominant Juvenile Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 27 0.300 2 1997 2001
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism
disease Nervous System Diseases Disease or Syndrome 32 2 0.300 2 1997 2001
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism
disease Nervous System Diseases Disease or Syndrome 33 0.300 2 1997 2001
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 144 1 0.100 0
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.400 0.600 25 1987 2003
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 336 11 0.100 0
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 109 54 0.010 1.000 1 1 2010 2010
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 60 4 0.100 0
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 249 14 0.340 1.000 5 1995 2014
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 263 4 0.200 1 2008 2008
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes
phenotype Finding 11 0.100 0
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 786 197 0.030 1.000 3 2005 2009
CUI: C0007370
Disease: Catalepsy
Catalepsy
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 23 0.300 2 1999 2000
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype Finding 10 3 0.100 0
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplastic Process 1655 87 0.100 0.951 41 1989 2013