H2AX, H2A.X variant histone, 3014

N. diseases: 212; N. variants: 6
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2016 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.030 None 1.000 3 2012 2017
CUI: C0311276
Disease: Severe malnutrition
Severe malnutrition
disease Disease or Syndrome 13 1 0.010 None 1.000 1 2019 2019
CUI: C0740380
Disease: Varicella zoster
Varicella zoster
disease Disease or Syndrome 71 2 0.010 None 1.000 1 2014 2014
CUI: C0747742
Disease: polyp benign
polyp benign
disease Disease or Syndrome 10 0.010 None 1.000 1 2009 2009
Liver and Intrahepatic Bile Duct Epithelial Neoplasm
disease Neoplastic Process 12 0.200 None 1.000 1 2013 2013
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.010 None 1.000 1 2010 2010
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2017 2017
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome
disease Disease or Syndrome 54 2 0.010 None 1.000 1 2016 2016
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
disease Neoplastic Process 87 9 0.010 None 1.000 1 2019 2019
CUI: C3160889
Disease: Node-negative breast cancer
Node-negative breast cancer
disease Neoplastic Process 54 2 0.010 None 1.000 1 2011 2011
Primary differentiated carcinoma of thyroid gland
disease Neoplastic Process 167 41 0.010 None 1.000 1 2010 2010
CUI: C4745063
Disease: Biliary Tract Carcinoma
Biliary Tract Carcinoma
disease Neoplastic Process 25 1 0.010 None 1.000 1 2014 2014
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 332 56 0.010 None 1.000 1 2011 2011
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2019 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2019 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.200 None 1.000 1 2014 2014
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 1.000 14 2006 2019
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2008 2008
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.010 None < 0.001 1 2006 2006
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 2013 2013
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.010 None 1.000 1 2016 2016
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 162 21 0.010 None 1.000 1 2015 2015
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.010 None 1.000 1 2017 2017
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 76 206 0.020 None 1.000 2 2006 2010