Human (49 sources):
Abdominal pain,
Abnormal heart valve morphology,
Airway obstruction,
Angioedema,
Arthritis,
Ascites,
Ataxia,
Autoimmunity,
Cerebral palsy,
Complement deficiency,
Conjunctivitis,
Cough,
Cranial nerve paralysis,
Diarrhea,
Dyspnea,
Emphysema,
Episcleritis,
Glomerulopathy,
Hematuria,
Hemiplegia/hemiparesis,
Hemoptysis,
Hepatomegaly,
Immunologic hypersensitivity,
Inflammatory abnormality of the eye,
Irregular hyperpigmentation,
Joint dislocation,
Lymphadenopathy,
Lymphoma,
Meningitis,
Myalgia,
Nausea and vomiting,
Nephritis,
Pericardial effusion,
Peripheral neuropathy,
Pleural effusion,
Proteinuria,
Pruritus,
Recurrent bacterial infections,
Reduced tendon reflexes,
Renal insufficiency,
Restrictive ventilatory defect,
Seizure,
Sensorineural hearing impairment,
Sensory neuropathy,
Skin rash,
Small vessel vasculitis,
Splenomegaly,
Systemic lupus erythematosus,
Uveitis
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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.