Human (61 sources):
Abnormal pyramidal sign,
Abnormality of the Leydig cells,
Abnormality of the face,
Abnormally large globe,
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,
Congestive heart failure,
Conjunctivitis,
Elbow flexion contracture,
Elevated erythrocyte sedimentation rate,
Elevated hepatic transaminase,
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 antibody level,
Intellectual disability, mild,
Joint stiffness,
Lipoatrophy,
Lipodystrophy,
Lymphadenopathy,
Macroglossia,
Macrotia,
Microcytic anemia,
Muscle weakness,
Osteopenia,
Panniculitis,
Prominent nose,
Recurrent fever,
Respiratory insufficiency,
Right bundle branch block,
Seizure,
Short stature,
Skeletal muscle atrophy,
Skin rash,
Splenomegaly,
Stiff skin,
Subcutaneous nodule,
Thick lower lip vermilion,
Thrombocytopenia
[+]
|
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.