EP300, E1A binding protein p300, 2033

N. diseases: 148; N. variants: 5
Source: BEFREE ×
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: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 856 25 0.010 None 1.000 1 2018 2018
Muscular Dystrophy, Facioscapulohumeral
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 133 3 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 106 1 0.010 None 1.000 1 2010 2010
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2014 2014
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma
disease Neoplasms Neoplastic Process 198 1 0.010 None < 0.001 1 2015 2015
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 475 7 0.010 None 1.000 1 2015 2015
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2011 2011
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 477 7 0.010 None 1.000 1 2015 2015
CUI: C0279646
Disease: Childhood Acute Monocytic Leukemia
Childhood Acute Monocytic Leukemia
disease Neoplasms Neoplastic Process 70 0.010 None 1.000 1 2000 2000
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma
disease Neoplasms Neoplastic Process 198 1 0.010 None < 0.001 1 2015 2015
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplasms Neoplastic Process 1144 24 0.010 None 1.000 1 2004 2004
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 407 90 0.010 None 1.000 1 2003 2003
CUI: C0234233
Disease: Sore to touch
Sore to touch
phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom 56 8 0.010 None 1.000 1 2018 2018
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 729 167 0.010 None 1.000 1 2017 2017
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection
disease Infections Disease or Syndrome 427 42 0.010 None 1.000 1 2014 2014
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 904 157 0.010 None 1.000 1 2019 2019
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 406 101 0.010 None 1.000 1 2014 2014
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
disease Neoplasms Neoplastic Process 293 4 0.010 None < 0.001 1 2015 2015
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Infections Disease or Syndrome 1469 42 0.010 None 1.000 1 2018 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 602 50 0.010 None 1.000 1 2004 2004
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
group Neoplasms; Stomatognathic Diseases Neoplastic Process 720 172 0.010 None 1.000 1 2017 2017
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 90 0.010 None 1.000 1 2014 2014
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
disease Cardiovascular Diseases Disease or Syndrome 566 78 0.010 None 1.000 1 2016 2016
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2018 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2011 2011