Human (61 sources):
Abnormality of the face,
Abnormality of the Leydig cells,
Abnormally large globe,
Abnormal pyramidal sign,
Adipose tissue loss,
Anemia,
Arachnodactyly,
Arrhythmia,
Arthralgia,
Arthrogryposis multiplex congenita,
Basal ganglia calcification,
Bone pain,
Camptodactyly of finger,
Cardiomegaly,
Clubbing of fingers,
Clubbing of toes,
Complete right bundle branch block,
Congestive heart failure,
Conjunctivitis,
Elbow flexion contracture,
Elevated circulating hepatic transaminase concentration,
Elevated erythrocyte sedimentation rate,
Episcleritis,
Erythema,
Erythema nodosum,
Failure to thrive,
Fever,
Finger swelling,
Flexion contracture,
Flexion contracture of toe,
Growth abnormality,
Growth delay,
Hepatomegaly,
Hyperhidrosis,
Hyperostosis,
Hyperpigmentation of the skin,
Hypertriglyceridemia,
Increased circulating immunoglobulin concentration,
Intellectual disability, mild,
Joint stiffness,
Lipoatrophy,
Lipodystrophy,
Lymphadenopathy,
Macroglossia,
Macrotia,
Microcytic anemia,
Muscle weakness,
Osteopenia,
Panniculitis,
Prominent nose,
Recurrent fever,
Respiratory insufficiency,
Seizure,
Short stature,
Skeletal muscle atrophy,
Skin rash,
Splenomegaly,
Stiff skin,
Subcutaneous nodule,
Thick lower lip vermilion,
Thrombocytopenia
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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.