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: C0302332
Disease: Poisoning syndrome
Poisoning syndrome
disease Disease or Syndrome 14 0.060 None 1.000 6 2006 2019
CUI: C0268070
Disease: Hypocupremia
Hypocupremia
disease Disease or Syndrome 23 2 0.040 None 1.000 4 2007 2012
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
phenotype Sign or Symptom 116 7 0.010 None 1.000 1 2015 2015
CUI: C0741899
Disease: Poorly differentiated carcinoma
Poorly differentiated carcinoma
phenotype Neoplastic Process 64 2 0.010 None 1.000 1 2002 2002
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder)
disease Disease or Syndrome 106 0.010 None 1.000 1 2018 2018
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
disease Disease or Syndrome 3 7 0.010 None 1.000 1 2019 2019
CUI: C3495797
Disease: Peripheral artery stenosis
Peripheral artery stenosis
disease Disease or Syndrome 1 0.010 None < 0.001 1 2018 2018
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2009 2009
CUI: C4732730
Disease: Blood spots
Blood spots
disease Disease or Syndrome 117 0.010 None 1.000 1 2017 2017
CUI: C0239842
Disease: Tremor of hands
Tremor of hands
phenotype Sign or Symptom 31 7 0.100 None 0 1
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin
phenotype Finding 12 5 0.100 None 0 1
CUI: C1848453
Disease: Poor motor coordination
Poor motor coordination
phenotype Finding 6 1 0.100 None 0
High nonceruloplasmin-bound serum copper
phenotype Finding 3 2 0.100 None 0 1
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
Proximal muscle weakness in lower limbs
phenotype Finding 30 4 0.100 None 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0
phenotype Finding 67 0.100 None 0
Mixed demyelinating and axonal polyneuropathy
disease Disease or Syndrome 1 0.100 None 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0
phenotype Finding 67 0.100 None 0
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.020 None 1.000 2 2017 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.020 None 1.000 2 2017 2019
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
Left ventricular systolic dysfunction
disease Cardiovascular Diseases Disease or Syndrome 41 11 0.010 None 1.000 1 2018 2018
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
group Cardiovascular Diseases Disease or Syndrome 319 128 0.010 None 1.000 1 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