CREBBP, CREB binding protein, 1387

N. diseases: 438; N. variants: 123
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: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 767 118 0.010 None 1.000 1 2018 2018
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 73 23 0.010 None 1.000 1 2006 2006
CUI: C0242225
Disease: Color blindness
Color blindness
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 1987 1987
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 48 0.010 None 1.000 1 2001 2001
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2018 2018
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 126 30 0.010 None 1.000 1 2000 2000
Muscular Dystrophy, Facioscapulohumeral
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.010 None 1.000 1 2019 2019
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 2014 2014
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2012 2012
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
disease Neoplasms Neoplastic Process 51 2 0.010 None 1.000 1 2001 2001
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
disease Cardiovascular Diseases Disease or Syndrome 586 90 0.010 None 1.000 1 2016 2016
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.010 None 1.000 1 2014 2014
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 329 23 0.010 None 1.000 1 2012 2012
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2017 2017
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 762 24 0.010 None 1.000 1 2012 2012
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 771 25 0.010 None 1.000 1 2012 2012
Malignant neoplasm of colon stage IV
disease Digestive System Diseases; Neoplasms Neoplastic Process 108 7 0.010 None 1.000 1 2019 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None < 0.001 1 2013 2013
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.010 None 1.000 1 2018 2018
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 80 16 0.010 None 1.000 1 2019 2019
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 114 7 0.010 None 1.000 1 2019 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.010 None 1.000 1 2012 2012
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2014 2014
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 11 1 0.010 None 1.000 1 2014 2014
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell
disease Neoplasms Neoplastic Process 185 7 0.010 None 1.000 1 2015 2015