Human (62 sources):
Abnormal facial shape,
Abnormal pyramidal sign,
Abnormality of the abdominal wall,
Abnormality of the cardiovascular system,
Abnormality of the dentition,
Abnormality of the gallbladder,
Abnormality of the nail,
Absent/hypoplastic coccyx,
Absent/hypoplastic paranasal sinuses,
Acrocyanosis,
Angiokeratoma,
Anhidrosis,
Anterior beaking of lumbar vertebrae,
Anterior beaking of thoracic vertebrae,
Barrel-shaped chest,
Brachycephaly,
Cardiomegaly,
Cerebral atrophy,
Cervical platyspondyly,
Coarse facial features,
Corneal opacity,
Coxa valga,
Decreased muscle mass,
Dry skin,
Dysostosis multiplex,
Elevated sweat chloride,
Failure to thrive,
Flexion contracture,
Frontal bossing,
Generalized hyperkeratosis,
Global developmental delay,
Hearing impairment,
Hepatomegaly,
Hernia,
Hyperhidrosis,
Hypertelorism,
Hypothyroidism,
Hypotonia,
Intellectual disability,
Intellectual disability, severe,
Kyphosis,
Lipoatrophy,
Lumbar hyperlordosis,
Macroglossia,
Oligosacchariduria,
Polyneuropathy,
Prominent forehead,
Recurrent respiratory infections,
Scoliosis,
Seizure,
Shield chest,
Short stature,
Spastic tetraplegia,
Spasticity,
Splenomegaly,
Thick eyebrow,
Thick lower lip vermilion,
Tortuosity of conjunctival vessels,
Urinary glycosaminoglycan excretion,
Vacuolated lymphocytes,
Vascular skin abnormality,
Wide nose
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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.