Human (70 sources):
Abnormal cardiovascular system morphology,
Abnormal cerebral vascular morphology,
Abnormal endocardium morphology,
Abnormal sternum morphology,
Abnormal thorax morphology,
Abnormality of the mouth,
Abnormality of the skin,
Abnormality of thrombocytes,
Accelerated atherosclerosis,
Acne,
Angina pectoris,
Angioid streaks of the fundus,
Arterial stenosis,
Arteriosclerosis,
Atherosclerosis,
Blue sclerae,
Bruising susceptibility,
Calcification of falx cerebri,
Cerebral calcification,
Cerebral hemorrhage,
Choroidal neovascularization,
Civatte bodies,
Congestive heart failure,
Coronary artery calcification,
Drusen,
Excessive wrinkled skin,
Gastrointestinal hemorrhage,
Hemiplegia/hemiparesis,
High palate,
High, narrow palate,
Hyperextensible skin,
Hypermelanotic macule,
Hypertension,
Hypophosphatemic rickets,
Hypothyroidism,
Intermittent claudication,
Kyphosis,
Lack of skin elasticity,
Macular degeneration,
Medial calcification of large arteries,
Medial calcification of medium-sized arteries,
Metamorphopsia,
Mitral stenosis,
Mitral valve prolapse,
Multiple lipomas,
Myocardial infarction,
Myopia,
Nephrocalcinosis,
Peau d'orange,
Postural instability,
Premature occlusive vascular stenosis,
Pruritus,
Reduced visual acuity,
Renal insufficiency,
Renovascular hypertension,
Restrictive cardiomyopathy,
Retinal hemorrhage,
Retinopathy,
Scoliosis,
Skin rash,
Striae distensae,
Stroke,
Subcutaneous nodule,
Sudden cardiac death,
Telangiectasia of the skin,
Thickened nuchal skin fold,
Vascular dilatation,
Visual impairment,
Yellow papule,
obsolete Joint hyperflexibility
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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.