EP300, E1A binding protein p300, 2033

N. diseases: 322; N. variants: 23
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.620 1.000 3 2004 2018
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.520 1.000 3 1 2000 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.520 1.000 3 2004 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1845 136 0.500 0
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 22 80 0.400 1.000 16 2005 2018
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2
disease Disease or Syndrome 1 16 0.400 8 16 1993 2018
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 strong 4 2005 2010
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 574 71 0.370 1.000 7 2010 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.360 1.000 6 1997 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.320 1.000 2 1996 2004
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 1022 148 0.310 1.000 3 2007 2014
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 237 39 0.310 2 2005 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.310 2 2006 2015
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
disease Neoplasms Neoplastic Process 398 6 0.310 1.000 2 2009 2011
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 839 145 0.310 1.000 2 2013 2013
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.310 1.000 1 2013 2013
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 617 126 0.310 1.000 1 2017 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.300 1 2016 2016
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 207 29 0.300 1 2013 2013
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.300 1 2015 2015
Mycoplasma-Induced Stevens-Johnson Syndrome
disease Immune System Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Substance-Related Disorders Disease or Syndrome 30 0.300 1 2016 2016
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
disease Immune System Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Substance-Related Disorders Disease or Syndrome 32 0.300 1 2016 2016
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2016 2016
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome
disease Immune System Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Substance-Related Disorders Disease or Syndrome 52 13 0.300 1 2016 2016
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis
disease Immune System Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Substance-Related Disorders Disease or Syndrome 66 17 0.300 1 2016 2016