Mitochondria Phenome Knowledgebase

Gene Symbol ATP7B
Ensembl ID ENSG00000123191 Entrez 540
Gene Alias PWD; WC1; WD; WND Subcellular Locations Cytoplasm Golgi-apparatus Membrane Mitochondria
Map Position 13q14.3 Subcell PMIDs 9600907
OMIM Gene 606882 Protein Complex
Swissprot ID P35670 Swissprot Description Copper-transporting ATPase 2
OMIM Disease Wilson disease (WD) [277900]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ATP7B 277900 Neoplasms oncologic #2991870 #15609699
ATP7B 277900 Digestive-system-neoplasms oncologic #2991870 #15609699
ATP7B 277900 Hepatocellular-carcinoma susceptibility; primary hepatocellular carcinoma oncologic 2991870 15609699
ATP7B 277900 Musculoskeletal-diseases bone deformities; lower extremites musculoskeletal #3595645 #10790207 #10925743 15146013 #15274886 #15368714 #15636319
ATP7B 277900 Bone-diseases musculoskeletal #10790207 #15274886 #15368714 #15636319
ATP7B 277900 Metabolic-bone-diseases osteopenia; degenerative changes; osteophytes musculoskeletal #10790207 #15274886 #15368714 15636319
ATP7B 277900 Osteomalacia musculoskeletal 15274886
ATP7B 277900 Osteoporosis osteoporotic changes musculoskeletal 10790207 15274886 15368714 15636319
ATP7B 277900 Spinal-diseases spine osteochondritis musculoskeletal 15274886
ATP7B 277900 Pathological-fractures musculoskeletal 15274886
ATP7B 277900 Joint-diseases arthropathy musculoskeletal #3595645 #10925743 #15146013 #15274886 15636319
ATP7B 277900 Arthralgia osteoarthral symptoms; joint pain musculoskeletal 3595645 15636319
ATP7B 277900 Arthritis polyarthritis; small joint arthritis; large joint arthritis musculoskeletal #10925743 15146013 #15274886 15636319
ATP7B 277900 Osteoarthritis premature osteoarthritis musculoskeletal 10925743 15274886 15636319
ATP7B 277900 Joint-limitations flexion deformity; distal joints abnormal; hand; feet; painful restriction of movement musculoskeletal 15636319
ATP7B 277900 Digestive-system-diseases gastrointestinal #1463 #682676 #759736 #2991870 #8229372 #8585490 #8734560 #9160075 #9706533 #10721669 #10745386 #10981891 #11060541 #11086396 #11454376 #12211729 #12376745 #12894051 #15368714 #15557537 #15609699 #15636319 #15845031 #15909172 #15952988 #16381639 #16416207
ATP7B 277900 Biliary-tract-diseases gastrointestinal #16381639 #16416207
ATP7B 277900 Cholestasis cholestasis in bile canaliculi gastrointestinal 16381639 16416207
ATP7B 277900 Gastrointestinal-diseases gastrointestinal #10721669 #11086396 #15557537 #15609699 #15636319 #16416207
ATP7B 277900 Deglutition-disorders dysphagia; solid food gastrointestinal 11086396 15557537
ATP7B 277900 Esophageal-varices oesophageal varices gastrointestinal 10721669 15609699 15636319 16416207
ATP7B 277900 Liver-diseases hepatic failure; hepatic coma; liver necrosis; hepato lenticular degeneration gastrointestinal 682676 759736 2991870 8229372 #8585490 8734560 #9160075 9706533 10721669 #10745386 10981891 #11060541 11454376 #12376745 #12894051 #14639035 #15368714 #15557537 #15609699 #15636319 15845031 #15909172 15952988 #16381639 #16416207
ATP7B 277900 Fatty-liver steatosis; fibrosis; lesions; macrovesicular steatosis gastrointestinal 10981891 11060541 12376745 15845031 16381639 16416207
ATP7B 277900 Hepatitis atypical; prolonged; chronic gastrointestinal 10721669 10745386 15368714
ATP7B 277900 Liver-cirrhosis micronodular; nodularity gastrointestinal 8585490 9160075 10721669 10981891 11060541 11454376 12376745 12894051 15557537 15609699 16381639 16416207
ATP7B 277900 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 9160075 10745386 11060541 12376745 12894051 14639035 15368714 15557537 15636319 15909172 16416207
ATP7B 277900 Hepatomegaly gastrointestinal 10745386 15368714 15845031
ATP7B 277900 Abdominal-pain peritonitis; ascites; abdominal distension; distension gastrointestinal 10745386 12211729 16416207
ATP7B 277900 Vomiting nausea gastrointestinal 12211729 15368714
ATP7B 277900 Respiratory-tract-diseases respiratory #11454376
ATP7B 277900 Lung-diseases respiratory #11454376
ATP7B 277900 Pneumonia respiratory 11454376
ATP7B 277900 Nervous-system-diseases neurologic #759736 #3052696 #3595645 #6888480 #8585490 #9160075 #9706533 #10721669 #10864623 #10981891 #11060541 #11086396 #11454376 #12211729 #12376745 #12894051 #14639035 #15146013 #15557537 #15636319 #15909172 #15952988
ATP7B 277900 Central-nervous-system-diseases neurologic #759736 #3052696 #3595645 #6888480 #8585490 #9160075 #9706533 #10721669 #10864623 #10981891 #11060541 #11086396 #11454376 #12211729 #12376745 #14639035 #15146013 #15557537 #15636319 #15909172 #15952988
ATP7B 277900 Brain-diseases neurologic 759736 #3052696 #6888480 #8585490 #9706533 #11060541 #11086396 #12211729 #12376745 #15146013 #15636319 #15909172
ATP7B 277900 Basal-ganglia-diseases basal ganglia degeneration; basal ganglia softening; basal ganglia hypodensities; CT findings neurologic 8585490 15636319
ATP7B 277900 Brain-edema cytotoxic; cerebral edema neurologic 8585490 15909172
ATP7B 277900 Encephalopathy hepatic encephalopathy; systemic encephalopathy neurologic 9706533 11060541
ATP7B 277900 Seizures tetany; spasms; epilepsy; maybe treatment related; grand mal; partial complex; convulsions; tonic clonic seizures; epileptic neurologic 3052696 6888480
ATP7B 277900 Headache-disorders headache neurologic 3052696 12211729
ATP7B 277900 Leukoencephalopathy MRI findings; signal intensity abnormalities; white matter abnormal; metachromatic leukodystrophy; leukodystrophy neurologic 8585490 15146013 15909172
ATP7B 277900 Cerebral-atrophy parenchymal brain; cortical atrophy; CT findings neurologic 11086396 12376745 15636319
ATP7B 277900 Cerebral-necrosis neuronal necrosis neurologic 15909172
ATP7B 277900 Movement-disorders involuntary movements; intermittend; thumbs; palms; paroxysmal movements neurologic 3052696 #3595645 8585490 #9160075 #9706533 #10721669 #10864623 #10981891 #11086396 11454376 12376745 #14639035 #15146013 15557537 #15636319 15909172 #15952988
ATP7B 277900 Choreatic-disorders hemichorea; rheumatic chorea; chorea neurologic 9706533 15146013 15909172
ATP7B 277900 Dystonic-disorders intermittent; dystonic posturing; arms; dystonic movements; dystonia neurologic 8585490 9706533 10981891 11086396 14639035 15557537 15909172
ATP7B 277900 Parkinsonian-disorders parkinsonism; pseudoparkinsonian neurologic 8585490 10981891 11454376 15952988
ATP7B 277900 Dyskinesias dysdiadochokinesia; mild neurologic 9706533 12376745 #15636319
ATP7B 277900 Bradykinesia bradykinesia involving all four limbs neurologic 15636319
ATP7B 277900 Tremor postural tremor; hand tremor; resting tremor; fine tremor of extremities; tremulousness neurologic 3595645 9160075 9706533 10721669 10864623 11454376 12376745 15636319
ATP7B 277900 Spinal-cord-diseases corticospinal tract abnormalites neurologic 8585490
ATP7B 277900 Extrapyramidal-tract-signs extrapyramidal signs; extrapyramidal findings; extrapyramidal disease neurologic 759736 8585490 11086396 15636319
ATP7B 277900 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; putamen abnormal; nucleus caudatus abnormal; bilateral symmetric; basal ganglia abnormal; midbrain abnormal; white matter abnormal; globus pallidus abnormal; claustrum abnormal; thalamus abnormal; subcortical regions abnormal; mesencephalon abnormal; pons abnormal; vermis abnormal; dentatorubrothalamic tract abnormal; pontocerebellar tract abnormal neurologic 8585490 9160075 9706533 10864623 11086396 15557537 15909172
ATP7B 277900 Neurologic-manifestations neurologic #3595645 #9160075 #9706533 #10721669 #10864623 #11086396 #12376745 #12894051 #14639035 #15557537 #15636319 #15909172
ATP7B 277900 Ataxia ataxic gait; limbs neurologic 9160075 10721669 15557537
ATP7B 277900 Gait-disorders difficulty walking; limping; shuffling gait; gait disturbance neurologic 3595645 9160075 11086396 12894051 14639035 15557537
ATP7B 277900 Neurobehavioral-manifestations neurologic #3595645 #9160075 #9706533 #10721669 #10864623 #11086396 #12376745 #12894051 #14639035 #15557537 #15909172
ATP7B 277900 Catatonia psychosis and catatonia occurred more commonly neurologic 9706533
ATP7B 277900 Speech-disorders difficulty in speech; speech problems; speech difficulties neurologic #3595645 9706533 #10864623 #11086396 #12376745 12894051 14639035 #15557537 #15909172
ATP7B 277900 Aphasia dysphasia; agraphia neurologic 10864623 12376745 15909172
ATP7B 277900 Dysarthria severe dysarthria; barely comprehensible speech; slurred speech; monotone dysarthria neurologic 3595645 9706533 10864623 11086396 12376745 14639035 15557537
ATP7B 277900 Consciousness-disorders syncopal episodes neurologic 10721669
ATP7B 277900 Memory-disorders cognitive impairment; impaired memory; impaired learning neurologic 9160075 9706533 15909172
ATP7B 277900 Irritability irritability and aggression; persistent personality change neurologic 9160075 9706533
ATP7B 277900 Neuromuscular-manifestations neurologic #9160075 #11086396 #14639035 #15557537 #15636319 #15909172
ATP7B 277900 Muscle-hypertonia increased tone; limbs neurologic 9160075 15557537
ATP7B 277900 Muscle-rigidity shoulder; elbow; wrist joints; lower limbs; axial muscles neurologic 11086396 14639035 15636319 15909172
ATP7B 277900 Reflexes-abnormal neurologic #9160075 #11086396 #14639035 #15557537 #15636319
ATP7B 277900 Hyperreflexia deep tendon reflexes abnormal; slightly exaggerated; brisk jaw jerk; brisk reflexes neurologic 9160075 11086396 14639035 15557537 15636319
ATP7B 277900 Pyramidal-tract-signs pseudobulbar palsy; pseudobulbar paralysis; extensor plantar response; babinski sign; chaddock sign; hoffmann sign; pyramidal signs neurologic 11086396 14639035
ATP7B 277900 Stroke-like-episodes strokelike presentation; sudden onset of neurologic syndrome neurologic 15557537
ATP7B 277900 Sleep-disorders insomnia; nocturnal insomnia neurologic 14639035
ATP7B 277900 Eye-diseases ophthalmologic #8585490 #9160075 #9706533 #10721669 #10864623 #10981891 #11060541 #12376745 #12441847 #12894051 #15557537 #15636319 #15845031 #15952988 #16416207
ATP7B 277900 Lens-diseases ophthalmologic #10864623 #12441847
ATP7B 277900 Cataract sunflower cataracts; bilateral ophthalmologic 10864623 12441847
ATP7B 277900 Vision-disorders decreased vision; progressive visual loss; visual symptoms ophthalmologic 12441847
ATP7B 277900 Kayser-Fleischer-Ring copper deposition ring; cornea ring; brownish coloration in the descemet membrane; slit lamp examination ophthalmologic 8585490 9160075 9706533 10721669 10981891 11060541 12376745 12441847 12894051 15557537 15636319 15845031 15952988 16416207
ATP7B 277900 Genitourinary-diseases genitourinary #9160075 #10790207 #10877157 #11060541 #15368714
ATP7B 277900 Urologic-diseases genitourinary #10790207 #11060541 #15368714
ATP7B 277900 Kidney-diseases genitourinary #10790207 #11060541 #15368714
ATP7B 277900 Nephrocalcinosis renal calculi genitourinary 15368714
ATP7B 277900 Renal-insufficiency renal tubular damage genitourinary 10790207 11060541 15368714
ATP7B 277900 Female-genital-diseases genitourinary #9160075 #10877157
ATP7B 277900 Infertility-female female infertility; abortions; gestosis; stillbirth; preterm births; spontaneous abortions genitourinary 10877157
ATP7B 277900 Menstruation-disturbances amenorrhea genitourinary 9160075 10877157
ATP7B 277900 Pregnancy-complications complications during pregnancy genitourinary 10877157
ATP7B 277900 Cardiovascular-diseases cardiovascular #3829752 #10790207
ATP7B 277900 Heart-diseases cardiovascular #3829752 #10790207
ATP7B 277900 Arrhythmia tachycardia; supraventricular ectopic beats; contractions abnormal; fibrillations; heart block cardiovascular 3829752
ATP7B 277900 Cardiomyopathy mild; hypertrophic; dilated cardiovascular 3829752 10790207
ATP7B 277900 Cardiorespiratory-arrest cardiac death; cardiac failure cardiovascular 3829752
ATP7B 277900 Vascular-diseases cardiovascular #3829752
ATP7B 277900 Hypotension cardiovascular #3829752
ATP7B 277900 Orthostatic-hypotension asymptomatic orthostatic hypotension; autonomic dysfunction cardiovascular 3829752
ATP7B 277900 Hematologic-diseases hematologic #682676 #5936452 #8229372 #9160075 #10721669 #11060541 #12211729 #12376745 #12894051 #15368714 #15609699 #15636319 #16416207
ATP7B 277900 Anemia hemolytic anemia; coombs positive hemolytic anemia hematologic 9160075 10721669 12376745 15609699 16416207
ATP7B 277900 Blood-coagulation-disorders prothrombin time prolonged; epistaxis hematologic 11060541 12211729 15636319
ATP7B 277900 Blood-platelet-disorders hematologic #682676 #9160075 #16416207
ATP7B 277900 Thrombocytopenia platelets decreased hematologic 682676 9160075 16416207
ATP7B 277900 Blood-protein-disorders hematologic #11060541 #12894051
ATP7B 277900 Hypoalbuminemia albumin levels decreased hematologic 11060541 12894051
ATP7B 277900 Hemoglobin-levels-abnormal hemoglobin deficiency hematologic 11060541 15368714 15609699 15636319 16416207
ATP7B 277900 Leukocyte-disorders hematologic #682676
ATP7B 277900 Leukopenia hematologic 682676
ATP7B 277900 Pancytopenia hematologic 5936452 8229372
ATP7B 277900 Skin-diseases dermatologic #11060541 #12894051 #14639035 #15636319
ATP7B 277900 Gynecomastia bilateral; rare dermatologic 12894051
ATP7B 277900 Pruritus pruritus; scarring dermatologic 11060541
ATP7B 277900 Sweat-gland-diseases dermatologic #14639035
ATP7B 277900 Hyperhidrosis sweating dermatologic 14639035
ATP7B 277900 Paleness pale child; mild pallor dermatologic 11060541 15636319
ATP7B 277900 Metabolic-diseases metabolic #3595645 #6888480 #9160075 #9706533 #10745386 #10864623 #11060541 #11454376 #12211729 #15274886 #15368714 #15909172 #16381639 #16416207
ATP7B 277900 Acid-base-imbalance metabolic #15909172
ATP7B 277900 Acidosis lactic acidosis; putamen acidosis; cerebral acidosis metabolic 15909172
ATP7B 277900 Metabolic-brain-diseases PET findings; positron emission tomography; glucose metabolic rate reduced; hypometabolism; cerebellum abnormal; striatum abnormal; cerebral cortex abnormal; thalamus abnormal metabolic 9706533
ATP7B 277900 Hyperbilirubinemia jaundice; icterus metabolic 3595645 9160075 10745386 10864623 11060541 11454376 12211729 15368714 16381639 16416207
ATP7B 277900 Hypouricemia uric acid decreased; serum; uricaciduria; De Toni Fanconi Debre syndrome metabolic 11060541
ATP7B 277900 Aminoaciduria generalized; De Toni Fanconi Debre syndrome metabolic 11060541
ATP7B 277900 Phosphorus-metabolism-disorders metabolic #6888480 #15274886
ATP7B 277900 Hypophosphatemia hyperphosphaturia; De Toni Fanconi Debre syndrome metabolic 6888480 15274886
ATP7B 277900 Water-electrolyte-imbalance metabolic #6888480 #15274886 #15368714
ATP7B 277900 Hypocalcemia hypocalcemia; hypercalcuria; De Toni Fanconi Debre syndrome metabolic 6888480 15274886 15368714
ATP7B 277900 Endocrine-system-diseases endocrinologic #6888480 #10790207 #10877157
ATP7B 277900 Gonadal-disorders endocrinologic #10877157
ATP7B 277900 Hypogonadism hypogonadism in men; male hypogonadism endocrinologic 10877157
ATP7B 277900 Parathyroid-diseases endocrinologic #6888480 #10790207
ATP7B 277900 Hypoparathyroidism hypoparathyroidism endocrinologic 6888480 10790207
ATP7B 277900 Immune-system-diseases immunologic #15909172
ATP7B 277900 Infections febrile upper respiratory infection immunologic 15909172
ATP7B 277900 Psychiatric-disorders psychiatric #3052696 #8734560 #9160075 #9706533 #10721669 #11086396 #14639035 #15146013
ATP7B 277900 Behavioral-symptoms behavior abnormal; behavioral disturbances; psychiatric signs; agitation; incongruous behavior; frontal lobe signs; imitation of behaviour; suicidal behavior; behavioral changes; autoisolation psychiatric 3052696 9160075 9706533 11086396 14639035
ATP7B 277900 Aggression aggressive; persistent personality change psychiatric 9706533
ATP7B 277900 Mental-disorders frontal lobe signs; mental disorder psychiatric #8734560 #9160075 #9706533 #10721669 11086396 #14639035 #15146013
ATP7B 277900 Anxiety-disorders excessive anxiety; anxious psychiatric 8734560 9160075
ATP7B 277900 Dementia cognitive deficit psychiatric 8734560 9160075 9706533
ATP7B 277900 Mood-disorders affective disorder; emotional lability psychiatric #8734560 9160075 9706533 10721669
ATP7B 277900 Depressive-disorder depression; major depression; suicidal behavior psychiatric 8734560 9160075 9706533
ATP7B 277900 Schizophrenia-and-psychotic-disorders psychiatric #8734560 #9706533 #11086396 #14639035 #15146013
ATP7B 277900 Psychotic-disorders psychosis; psychosis and catatonia occurred more commonly psychiatric 9706533 14639035
ATP7B 277900 Schizophrenia schizophrenia like psychiatric 8734560 11086396 15146013
ATP7B 277900 Body-temperature-changes miscellaneous #12211729 #15909172
ATP7B 277900 Fever miscellaneous 12211729 15909172
ATP7B 277900 Exercise-intolerance fatigue miscellaneous 11454376 16416207
ATP7B 277900 Splenomegaly hepatosplenomegaly; hypersplenism miscellaneous 8229372 9160075 12894051 15636319 15845031
ATP7B 277900 Growth-disorders miscellaneous #11060541
ATP7B 277900 Failure-to-thrive appetite decreased; anorexia miscellaneous 11060541
ATP7B 277900 Salivary-gland-diseases miscellaneous #3595645 #14639035
ATP7B 277900 Sialorrhea drooling; hypersalivation miscellaneous 3595645 14639035
ATP7B 277900 Mitochondria-abnormal liver; christae abnormal; pleomorphism miscellaneous 11060541 16381639
ATP7B 277900 Alkaline-phosphatase-abnormal decreased miscellaneous 11060541 12211729
ATP7B 277900 Ceruloplasmin-levels-abnormal decreased; serum; hypoceruloplasminemia miscellaneous 9160075 9706533 10721669 10790207 10864623 10877157 10981891 11086396 11454376 12376745 12894051 14639035 15368714 15557537 15636319 15845031 15909172 15952988
ATP7B 277900 Copper-levels-abnormal elevated nonceruloplasmin bound serum copper; copperuria; copper overload; copper in liver; copper in brain; copper in kidney; copper in cornea; copper accumulation miscellaneous 8229372 8585490 8734560 9706533 10790207 10864623 10877157 10925743 10981891 11060541 11086396 11454376 12376745 12441847 12894051 14639035 15368714 15557537 15636319 15845031 15909172 16381639 16416207
ATP7B 277900 RCCI-deficiency liver miscellaneous 10981891
ATP7B 277900 RCCII-deficiency liver miscellaneous 10981891
ATP7B 277900 RCCIII-deficiency liver miscellaneous 10981891
ATP7B 277900 RCCIV-deficiency liver miscellaneous 10981891

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