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: C1876166
Disease: Endemic Tyrolean Infantile Cirrhosis
Endemic Tyrolean Infantile Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.010 None 1.000 1 1999 1999
CUI: C3495797
Disease: Peripheral artery stenosis
Peripheral artery stenosis 		disease Disease or Syndrome 1 0.010 None < 0.001 1 2018 2018
CUI: C1848456
Disease: Atypical or prolonged hepatitis
Atypical or prolonged hepatitis 		disease Digestive System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4024907
Disease: Mixed demyelinating and axonal polyneuropathy
Mixed demyelinating and axonal polyneuropathy 		disease Disease or Syndrome 1 0.100 None 0
CUI: C0152457
Disease: Kayser-Fleischer ring
Kayser-Fleischer ring 		disease Eye Diseases Disease or Syndrome 2 2 0.110 None < 0.001 1 2 2009 2009
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		disease Disease or Syndrome 3 7 0.010 None 1.000 1 2019 2019
CUI: C1848459
Disease: High nonceruloplasmin-bound serum copper
High nonceruloplasmin-bound serum copper 		phenotype Finding 3 2 0.100 None 0 1
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: C1848453
Disease: Poor motor coordination
Poor motor coordination 		phenotype Finding 6 1 0.100 None 0
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: C0312420
Disease: Hypersexuality state
Hypersexuality state 		disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 8 2 0.100 None 0
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: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 11 0.010 None 1.000 1 2019 2019
CUI: C4025888
Disease: Abnormality of the menstrual cycle
Abnormality of the menstrual cycle 		disease Pathological Conditions, Signs and Symptoms Finding 11 1 0.100 None 0
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		phenotype Finding 12 5 0.100 None 0 1
CUI: C0302332
Disease: Poisoning syndrome
Poisoning syndrome 		disease Disease or Syndrome 14 0.060 None 1.000 6 2006 2019
CUI: C0302280
Disease: Adrenogenital Syndrome
Adrenogenital Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C0018809
Disease: Heart Neoplasm
Heart Neoplasm 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 17 0.010 None 1.000 1 2006 2006
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: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 23 2 0.040 None 1.000 4 2007 2012
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: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias 		phenotype Nutritional and Metabolic Diseases Pathologic Function 24 0.300 None 1.000 1 2007 2007
CUI: C2169806
Disease: recurrent muscle twitches (symptom)
recurrent muscle twitches (symptom) 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 26 7 0.010 None 1.000 1 2018 2018
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		phenotype Finding 30 4 0.100 None 0
CUI: C0278076
Disease: Behavioral tic
Behavioral tic 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 31 2 0.010 None 1.000 1 2018 2018