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: C0018564
Disease: Hand deformities
Hand deformities 		group Musculoskeletal Diseases Anatomical Abnormality 60 2 0.100 None 0
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 49 45 0.010 None 1.000 1 2 2018 2018
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: 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.090 None 0.889 9 5 2012 2017
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 20 99 0.080 None 1.000 8 1994 2014
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: C0302332
Disease: Poisoning syndrome
Poisoning syndrome 		disease Disease or Syndrome 14 0.060 None 1.000 6 2006 2019
CUI: C0012714
Disease: Disorder of copper metabolism
Disorder of copper metabolism 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.040 None 1.000 4 2012 2019
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: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 23 2 0.040 None 1.000 4 2007 2012
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 51 0.040 None 0.750 4 2009 2018
CUI: C0019158
Disease: Hepatitis
Hepatitis 		group Digestive System Diseases Disease or Syndrome 656 42 0.310 None 1.000 3 2003 2007
CUI: C0085605
Disease: Liver Failure
Liver Failure 		disease Digestive System Diseases Disease or Syndrome 293 20 0.130 None 1.000 3 1 2011 2018
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: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.020 None 1.000 2 2012 2018
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.010 None 1.000 1 2019 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.010 None 1.000 1 2018 2018
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 73 0.010 None 1.000 1 1 2019 2019
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 224 10 0.010 None 1.000 1 2019 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.010 None 1.000 1 2018 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.010 None < 0.001 1 2009 2009
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2017 2017