atp7b Phenotypes

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Phenotypes

Gene Literature (3)

Nucleotides (65)

Interactants (11)

XB-GENEPAGE-6044680

Gene Symbol: atp7b Gene Name: ATPase, Cu++ transporting, beta polypeptide

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: atp7b assayed (3 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (62 sources): Abnormality of the hand, Abnormality of the menstrual cycle, Acute hepatic failure, Acute hepatitis, Aggressive behavior, Aminoaciduria, Anemia, Arthralgia, Arthritis, Atypical or prolonged hepatitis, Back pain, Bone pain, Bruising susceptibility, Chondrocalcinosis, Cirrhosis, Clumsiness, Coma, Dementia, Depression, Drooling, Dysarthria, Dysphagia, Dystonia, Elevated circulating hepatic transaminase concentration, Esophageal varix, Failure to thrive, Glycosuria, Hemolytic anemia, Hepatic failure, Hepatic steatosis, Hepatitis, Hepatocellular carcinoma, Hepatomegaly, High nonceruloplasmin-bound serum copper, Hypercalciuria, Hyperphosphaturia, Hypoparathyroidism, Increased body weight, Intellectual disability, Jaundice, Joint hypermobility, Joint swelling, Kayser-Fleischer ring, Mixed demyelinating and axonal polyneuropathy, Nephrolithiasis, obsolete Difficulty walking, obsolete Hypersexuality, Osteoarthritis, Osteomalacia, Osteoporosis, Pathologic fracture, Personality changes, Polyneuropathy, Poor motor coordination, Proteinuria, Proximal muscle weakness in lower limbs, Pruritus, Renal tubular dysfunction, Splenomegaly, Thrombocytopenia, Tremor, Weight loss [+]
Mouse (25 sources): abnormal cerebral hemisphere morphology, abnormal circulating bilirubin level, abnormal frontal lobe morphology, abnormal hepatocyte morphology, abnormal liver copper level, abnormal locomotor behavior, abnormal mammary gland physiology, abnormal mineral level, abnormal occipital lobe morphology, abnormal parietal lobe morphology, curly vibrissae, decreased circulating copper level, decreased liver copper level, diluted coat color, disheveled coat, endocrine/exocrine gland phenotype, increased circulating copper level, increased kidney copper level, liver/biliary system phenotype, maternal effect, neuron degeneration, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, reduced female fertility [+]
View all ortholog results at Monarch