ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
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: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 146 349 1.000 definitive 0.980 494 326 1983 2020
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
disease Digestive System Diseases Disease or Syndrome 282 21 0.440 None 0.750 4 1 2000 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.420 None 1.000 3 2007 2017
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.410 None 1.000 2 2007 2017
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.410 None 1.000 2 1 2014 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.360 None 1.000 7 2010 2018
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.340 None 1.000 5 2001 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.330 None 1.000 3 2 2002 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.320 None 1.000 4 2002 2008
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.320 None 1.000 3 2001 2019
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.320 None 1.000 3 2003 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.320 None 1.000 3 2 2002 2015
CUI: C0019158
Disease: Hepatitis
Hepatitis
group Digestive System Diseases Disease or Syndrome 656 42 0.310 None 1.000 3 2003 2007
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.310 None 1.000 1 2007 2007
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.310 None 1.000 1 2007 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.310 None 1.000 1 2002 2002
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.310 None 1.000 1 2009 2009
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.310 None 1.000 1 2009 2009
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 0.300 None 1.000 51 2000 2014
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation
phenotype Pathological Conditions, Signs and Symptoms Finding 166 0.300 None 1.000 3 2002 2009
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
disease Neoplasms Neoplastic Process 283 8 0.300 None 1.000 2 2002 2002
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma
disease Neoplasms Neoplastic Process 232 3 0.300 None 1.000 2 2002 2002
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell
disease Neoplasms Neoplastic Process 218 5 0.300 None 1.000 2 2002 2002
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis
phenotype Neoplasms Neoplastic Process 186 2 0.300 None 1.000 2 2002 2002
CUI: C0019208
Disease: Hepatoma, Novikoff
Hepatoma, Novikoff
disease Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 125 0.300 None 1.000 1 2013 2013