EPHX1, epoxide hydrolase 1, 2052

N. diseases: 196; N. variants: 5
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: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 3 0.600 limited 1.000 3 2003 2015
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 0.300 None 1.000 1 1990 1990
CUI: C1304119
Disease: Chronic stable plaque psoriasis
Chronic stable plaque psoriasis 		disease Disease or Syndrome 5 4 0.010 None 1.000 1 1 2016 2016
CUI: C4023004
Disease: Increased serum bile acid concentration
Increased serum bile acid concentration 		phenotype Finding 5 0.100 None 0
CUI: C0241982
Disease: Bulla of lung
Bulla of lung 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 1 2011 2011
CUI: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 12 1 0.300 None 1.000 1 1997 1997
CUI: C2350878
Disease: Focal Emphysema
Focal Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 12 0.300 None 1.000 1 1997 1997
CUI: C0586354
Disease: Esophageal dysplasia
Esophageal dysplasia 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 13 2 0.010 None 1.000 1 2003 2003
CUI: C0221227
Disease: Centriacinar Emphysema
Centriacinar Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 14 3 0.300 None 1.000 1 1997 1997
CUI: C3825816
Disease: Pneumonia in children
Pneumonia in children 		disease Disease or Syndrome 15 3 0.010 None 1.000 1 2005 2005
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant 		disease Disease or Syndrome 17 9 0.010 None 1.000 1 2006 2006
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated 		disease Congenital Abnormality 20 2 0.010 None < 0.001 1 2007 2007
CUI: C0024304
Disease: Lymphoma, Mixed-Cell
Lymphoma, Mixed-Cell 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 21 0.300 None 1.000 1 2001 2001
CUI: C0079757
Disease: Diffuse Mixed-Cell Lymphoma
Diffuse Mixed-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 21 0.300 None 1.000 1 2001 2001
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 23 154 0.300 limited 1.000 3 1994 2015
CUI: C0730607
Disease: Severe chronic obstructive pulmonary disease
Severe chronic obstructive pulmonary disease 		disease Respiratory Tract Diseases Disease or Syndrome 23 0.010 None 1.000 1 2004 2004
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 24 179 0.300 limited 1.000 3 1994 2015
CUI: C0079741
Disease: Lymphoma, Intermediate-Grade
Lymphoma, Intermediate-Grade 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 24 2 0.300 None 1.000 1 2001 2001
CUI: C0024306
Disease: Lymphoma, Undifferentiated
Lymphoma, Undifferentiated 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 25 0.300 None 1.000 1 2001 2001
CUI: C1449861
Disease: Micronuclei, Chromosome-Defective
Micronuclei, Chromosome-Defective 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2012 2012
CUI: C1449862
Disease: Micronuclei, Genotoxicant-Induced
Micronuclei, Genotoxicant-Induced 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2012 2012
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease Congenital Abnormality 31 0.300 limited 1.000 3 1994 2015
CUI: C0079770
Disease: Lymphoma, Small Noncleaved-Cell
Lymphoma, Small Noncleaved-Cell 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 32 0.300 None 1.000 1 2001 2001
CUI: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction 		disease Respiratory Tract Diseases Disease or Syndrome 35 0.300 None 1.000 1 1997 1997
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0