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: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2011 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2011 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2011 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.300 None 1.000 1 2011 2011
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 7 0.100 None 1.000 2 1 2005 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2018 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2018 2020
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.020 None 1.000 2 2008 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2018 2018
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 37 5 0.010 None 1.000 1 2010 2010
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma
disease Immune System Diseases Disease or Syndrome 133 46 0.010 None 1.000 1 1 2008 2008
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 123 3 0.010 None 1.000 1 2015 2015
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2017 2017
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2015 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2017 2017
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2016 2016
Malignant neoplasm of urinary bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.010 None 1.000 1 2018 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2018 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2018 2018
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 71 9 0.010 None 1.000 1 2015 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2017 2017
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.010 None 1.000 1 2018 2018
CUI: C0155877
Disease: Allergic asthma
Allergic asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 371 55 0.010 None 1.000 1 1 2008 2008
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2015 2015