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: C0270173
Disease: TORCH syndrome
TORCH syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0032578
Disease: Polyploidy
Polyploidy 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 4 0.300 None 1.000 1 2014 2014
CUI: C1333324
Disease: Barretts esophagus with dysplasia
Barretts esophagus with dysplasia 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0747742
Disease: polyp benign
polyp benign 		disease Disease or Syndrome 10 0.010 None 1.000 1 2009 2009
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 15 0.010 None 1.000 1 2004 2004
CUI: C1333419
Disease: Liver and Intrahepatic Bile Duct Epithelial Neoplasm
Liver and Intrahepatic Bile Duct Epithelial Neoplasm 		disease Neoplastic Process 12 0.200 None 1.000 1 2013 2013
CUI: C1333976
Disease: Liver and Intrahepatic Bile Duct Neoplasm
Liver and Intrahepatic Bile Duct Neoplasm 		disease Digestive System Diseases Neoplastic Process 12 0.200 None 1.000 1 2013 2013
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 12 13 0.010 None 1.000 1 2004 2004
CUI: C0238448
Disease: Testicular embryonal carcinoma
Testicular embryonal carcinoma 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 13 0.010 None 1.000 1 2014 2014
CUI: C0311276
Disease: Severe malnutrition
Severe malnutrition 		disease Disease or Syndrome 13 1 0.010 None 1.000 1 2019 2019
CUI: C0333704
Disease: Chromosome Breaks
Chromosome Breaks 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 14 0.300 None 1.000 1 2015 2015
CUI: C0586358
Disease: Biliary Intraepithelial Neoplasia
Biliary Intraepithelial Neoplasia 		disease Digestive System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2014 2014
CUI: C0376628
Disease: Chromosome Breakage
Chromosome Breakage 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 17 0.300 None 1.000 1 2015 2015
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 21 5 0.010 None 1.000 1 2019 2019
CUI: C2826321
Disease: Refractory Thrombocytopenia
Refractory Thrombocytopenia 		disease Hemic and Lymphatic Diseases Neoplastic Process 22 1 0.010 None 1.000 1 2010 2010
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		disease Neoplasms Neoplastic Process 24 14 0.010 None 1.000 1 2011 2011
CUI: C4745063
Disease: Biliary Tract Carcinoma
Biliary Tract Carcinoma 		disease Neoplastic Process 25 1 0.010 None 1.000 1 2014 2014
CUI: C1449861
Disease: Micronuclei, Chromosome-Defective
Micronuclei, Chromosome-Defective 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2016 2016
CUI: C1449862
Disease: Micronuclei, Genotoxicant-Induced
Micronuclei, Genotoxicant-Induced 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2016 2016
CUI: C0027643
Disease: Neoplasm Recurrence, Local
Neoplasm Recurrence, Local 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2009 2009
CUI: C0022593
Disease: Keratosis
Keratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 43 10 0.010 None 1.000 1 2009 2009
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		disease Skin and Connective Tissue Diseases Neoplastic Process 44 21 0.010 None 1.000 1 2009 2009
CUI: C0034103
Disease: Pulpitis
Pulpitis 		disease Stomatognathic Diseases Disease or Syndrome 47 0.010 None 1.000 1 2019 2019
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome 		disease Disease or Syndrome 54 2 0.010 None 1.000 1 2016 2016
CUI: C3160889
Disease: Node-negative breast cancer
Node-negative breast cancer 		disease Neoplastic Process 54 2 0.010 None 1.000 1 2011 2011