cavin1 Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (262)

Interactants (167)

XB-GENEPAGE-996119

Gene Symbol: cavin1 Gene Name: caveolae associated protein 1

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: cavin1 assayed (5 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (92 sources): Abnormal circulating creatine kinase concentration, Abnormal foot morphology, Abnormal hair morphology, Abnormal oral cavity morphology, Abnormality of skeletal muscle fiber size, Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Arrhythmia, Arterial stenosis, Atherosclerosis, Atlantoaxial dislocation, Atrial fibrillation, Bone cyst, Bradycardia, Broad foot, Cirrhosis, Congestive heart failure, Constipation, Decreased circulating IgA level, Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Diabetes mellitus, Dysmenorrhea, Dysphagia, Eczematoid dermatitis, Elevated circulating creatine kinase concentration, Elevated circulating growth hormone concentration, Elevated circulating hepatic transaminase concentration, Exercise intolerance, Exercise-induced myalgia, Failure to thrive, Feeding difficulties, Flexion contracture, Generalized hirsutism, Generalized muscle weakness, Glomerulopathy, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hirsutism, Hyperhidrosis, Hyperinsulinemia, Hyperlordosis, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Ileus, Immunodeficiency, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Mandibular prognathia, Muscle mounding, Muscle stiffness, Muscle weakness, Muscular dystrophy, Myalgia, Myocardial infarction, Myopathy, Nephropathy, Oligomenorrhea, Osteopenia, Osteoporosis, Palpitations, Pancreatitis, Peripheral neuropathy, Polycystic ovaries, Precocious puberty, Progressive proximal muscle weakness, Prolonged QT interval, Prolonged QTc interval, Prominent supraorbital ridges, Prominent umbilicus, Proximal muscle weakness, Pulmonary arterial hypertension, Pyloric stenosis, Recurrent fractures, Recurrent infections, Renal insufficiency, Scoliosis, Secondary amenorrhea, Skeletal muscle hypertrophy, Spinal rigidity, Splenomegaly, Tachycardia, Thickened skin, Vascular dilatation, Ventricular hypertrophy, Ventriculomegaly [+]
Mouse (15 sources): abnormal circulating lipid level, abnormal lung vasculature morphology, abnormal urinary bladder detrusor smooth muscle morphology, abnormal vascular endothelial cell morphology, absent caveolae, decreased basal metabolism, decreased locomotor activity, impaired contractility of urinary bladder detrusor smooth muscle, increased heart right ventricle weight, increased lean body mass, increased right ventricle systolic pressure, increased urinary bladder weight, perinatal lethality, incomplete penetrance, prenatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance [+]
View all ortholog results at Monarch